Hum. Reprod. Advance Access originally published online on January 7, 2008
Human Reproduction 2008 23(3):581-588; doi:10.1093/humrep/dem345
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)
1 Department of Genetics and Reproduction, Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic 2 Center for Reproductive Medicine REPROMEDA, Vinicni 235, 615 00 Brno, Czech Republic 3 Sanatorium Helios SIVF, Stefanikova 12, 602 00 Brno, Czech Republic
4Correspondence address. E-mail: rubes{at}vri.cz
 |
Abstract |
|---|
 Top Abstract IntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
BACKGROUND: alanced translocations are associated with infertility, spontaneous abortions and birth defects.
METHODS: We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 in sperm from three men who are carriers of two different translocations involving chromosomes 11 and 18. A control group comprised ten young, healthy normospermic men.
RESULTS: the higher prevalence of alternate segregation followed by adjacent 1, adjacent 2 and 3:1, and other segregants was observed in all three patients. Two carriers of the same translocation differed only in the frequency of adjacent 2 segregation (P < 0.01). The carrier of the other translocation showed significantly higher frequency of alternate (P < 0.01) and less adjacent 1 and 3:1 segregation products (P < 0.01). An increased frequency of XY (P < 0.01), YY (P < 0.05) and diploid (P < 0.01) sperm was also detected in the group of translocation carriers compared with the control group. This difference was caused by elevated frequencies of disomy and diploidy in two of our carriers.
CONCLUSIONS: the incidence of chromosomally unbalanced or aneuploid gametes varies in the individual translocation carriers even if the same chromosomes are included in the translocation. FISH analysis provides information useful for genetic counseling and assisted reproduction.
Key words: meiotic segregation/reciprocal translocation/interchromosomal effect
|
Introduction |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
Balanced reciprocal translocations have a high incidence (0.14%) in the human population (Nielsen and Wohlert, 1991
). Their presence in karyotype is usually associated with reproductive failures, spontaneous abortions and increased risk of birth defects.
It is known that translocated chromosomes and their normal homologues form a quadrivalent during the first meiotic division in carriers of reciprocal translocations and segregate by alternate, adjacent 1, adjacent 2, 3:1 or 4:0 mode in anaphase I. Abnormal segregation of quadrivalent chromosomes can result in gametes with partial or complete disomy and nullisomy of chromosomes involved in translocation. The frequencies of abnormal segregation depend on the specific chromosomes involved in the translocation, the localization of breaks and the chiasma frequency (Rickards, 1983).
Sperm meiotic segregation studies performed in human carriers of balanced reciprocal translocations have shown that 18.6–80.7% of spermatozoa are chromosomally unbalanced (reviewed by Morel et al., 2004a; Benet et al., 2005). These results were obtained by two methods of sperm chromosomal content analysis after in vitro fusion of human spermatozoa with hamster oocytes, as described by Rudak et al. (1978) and by fluorescence in situ hybridization (FISH) on decondensed sperm nuclei.
Interchromosomal effect (ICE) of balanced translocations, i.e. possible disturbance of meiotic pairing and segregation in chromosomes other than those involved in translocations, which appears to result in nondisjunction and the formation of aneuploid gametes (first described by Lejeune, 1963) has not been fully understood yet. Using the FISH method, due to its capacity to examine high numbers of spermatozoa, a new approach was introduced into this field; however, the results are contradictory.
Studies involving more individuals carrying the same translocation are necessary for correct understanding of meiotic behavior of chromosomes involved in translocations and their relationships to other chromosomes. Until now, to the best of our knowledge, only six studies on sperm analysing meiotic segregation in different men carrying the same reciprocal translocations transmitted in their family were published (Estop et al., 1992; Rousseaux et al., 1995; Cora et al., 2002; Anton et al., 2004; Morel et al., 2004b; Wiland et al., 2007). Here, we provide FISH results obtained in decondensed sperm from a father and son who both carried a t(11;18)(q22;q21.3) and make comparisons with sperm FISH data from a carrier of a t(11;18)(q23;q23). The possible ICE involving chromosomes X, Y, 7, 8 and 21 was also analysed by FISH.
|
Material and Methods |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
Patients
The first patient (P1) was a 27-year-old carrier of t(11;18)(q23;q23), ascertained as a carrier during parental cytogenetical examination following prenatal diagnosis of a 46,XX,add(18)q term fetus with acranius, anencephalus, cleft palate, diafragmatic hernia and stigmatization detected by ultrasound. The karyotype of his wife was normal: 46,XX. The refined karyotype of the fetus was 46,XX,der(18)t(11;18)pat.
The second patient (P2) was a 27-year-old carrier of t(11;18)(q22;q21.3), ascertained as a carrier because his wife had experienced discontinuance of gravidity followed by a secondary sterility. He inherited the translocation from his father (P3), who was 53 years old at the time of sperm collection.
All the data concerning the control group, which consisted of 10 young (age 19–20 years) and healthy normospermic men, were published previously (Rubes et al., 2005).
All of these men provided informed consent to participate in the study. The study protocol was reviewed and approved by the Institutional Review Board of the Faculty Hospital Brno.
Semen samples
Semen specimens were collected by masturbation after a requested abstinence interval of 3–7 days. Sperm concentration and percentages of motile and morphologically abnormal sperm were assessed according to standard procedures (World Health Organization, 1999) using Kruger
strict scoring criteria for morphology assessment. Patient P1 showed concentration of 40 million/ml, other seminal parameters were not analysed, because only frozen semen sample was available. Patient P2 showed sperm count of 60 million/ml with 60% motility, 66% of his spermatozoa were morphologically abnormal. Patient P3 showed sperm count of 84 million/ml with 50% motility and 82.5% of his spermatozoa were morphologically abnormal. The remaining semen was stored frozen at –80°C without any cryoprotectives. For the FISH assay, straws were thawed at room temperature, semen was smeared onto clean microscopic slides and allowed to air-dry. Sperm nuclei were decondensed by dithiothreitol, as described by Robbins et al. (1993) and hybridized immediately.
Sperm FISH
DNA probes used for each analysis are summarized in Table I.
|
Meiotic segregation
A three-color FISH assay was performed for the analysis of the meiotic segregation, using chromosome-specific
-satellite DNA probes for chromosome18 (CEP18, Spectrum Green, Vysis, Downers Grove, IL, USA) and cen11 (11 alpha satellite, biotin, Qbiogene, Illkirch Cedex, France) and a subtelomeric DNA probe for the distal part of the q-arm of chromosome 11 (tel 11q, red, Qbiogene). Ideograms of the normal and derivative chromosomes and the quadrivalent configurations with indicated locations of the DNA probes are demonstrated in Fig. 1.
|
Interchromosomal effect
A possible ICE was assessed in two experiments: first, a three-color FISH assay using chromosome-specific
-satellite DNA probes for chromosomes X (CEPX, Spectrum Green, Vysis) and 8 (CEP8, 1:1 mixture of Spectrum Orange and Spectrum Green, Vysis) and satellite III DNA probe for chromosome Y (CEPY, Spectrum Orange, Vysis), was used to distinguish between disomic and diploid sperm nuclei, nullisomic and nonhybridizing spermatozoa and meiosis I and meiosis II errors in sex-chromosomal aneuploidy and diploidy. Secondly, a two-color FISH using CEP7 (Spectrum Green) and LSI 21 (Spectrum Orange) DNA probes (Vysis) was performed on another slide in order to assess the frequencies of disomy of chromosomes 7 and 21. Two-color FISH using CEP18 (Spectrum Green) and LSI 21 (Spectrum Orange) DNA probes (Vysis) was performed for the assessment of frequencies of disomy of chromosomes 18 and 21 in the control group; these results were published previously (Rubes et al., 2005).
Fluorescence in situ hybridization
The slides were denatured in 70% formamide/2x standard saline citrate (SSC) (pH 7.2) at 72°C for 4 min, dehydrated in an ethanol series and air-dried. The hybridization mixtures containing CEP hybridization buffer (Vysis) and the probes were denatured at 72°C for 5 min and immediately chilled on ice. A 10-µl sample of the mixture was applied onto the slide, covered with a 24 x 24 mm2 cover slip and sealed with rubber cement. The slides were incubated in a dark humidified chamber at 37°C overnight. After hybridization the slides were washed for 10 min in 50% formamide/2x SSC (pH 7.2) at 45°C, for 10 min in 2x SSC at 45°C and for 10 min in 2x SSC at room temperature. Detection of biotinylated probe was performed by incubation of the slides for 30 min with a 1:1 mixture of avidin-fluorescein isothiocyanate (FITC) (Vector Laboratories, Burlingame, CA, USA) and avidin-Cy3 (Amersham, Arlington Heights, IL, USA) to obtain yellow signals. The preparations were mounted using the antifade solution (Vector Laboratories) containing 0.1 µg/ml 4',6-diamidino-2-phenylindole (DAPI) (Sigma Chemical Co., St Louis, MO, USA).
Sperm scoring
The slides were examined using an Olympus BX60 fluorescence microscope equipped with FITC/Propidium Iodide dual filter, DAPI/FITC/Texas Red triple-bandpass filter, FITC and Texas Red single filters and phase-contrast optics. Strict scoring criteria were used as follows. Sperm nuclei were scored only if they were intact, non-overlapped, non-overdecondensed and in a well-hybridized area of the slide. The sperm was identified as carrying two signals of a particular probe when the two fluorescence domains were: (i) of the same color and comparable in size and intensity, (ii) separated by a distance of at least one domain, (iii) not connected by fluorescent threads and (iv) were similar (in size and intensity) to those in neighboring cells. Because of the larger size of the Y domain, two Y domains in cells scored as disomic had to be separated by a distance corresponding to the distances between domains of the same color in X–X and 8–8 cells on the same slide. Diploid spermatozoa were discriminated from somatic cells or two overlapping spermatozoa using phase contrast optics under which sperm tails and cell borders could be easily recognized.
At least 1000 sperm heads were examined in each of the three patients in the meiotic segregation study. More than 10 000 sperm heads were scored in each patient and control donor for each combination of probes in the study of ICE.
Statistical analysis
All statistical analyses were performed using chi-square analysis by the Statistical Package for the Social Sciences (SPSS), version 14 for Windows (SPSS, Inc.Chicago, IL, USA) software package. A value of P < 0.05 was considered significant.
|
Results |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
Segregation analysis
The results obtained in our three patients are summarized in Table II. Sperm products from alternate, adjacent 1 and adjacent 2 segregations without recombination and with crossing over in one or both chromosomes involved in the translocations (11;18) and their signal patterns are illustrated in Fig. 2. A total of 1000 sperm was evaluated in the first patient (P1). Of 99.80% of sperm showing hybridization signals, 59.90% were normal/balanced and 40.10% abnormal. Adjacent 1 segregation was observed in 19.30% of spermatozoa, adjacent 2 in 14.00% and 3:1 in 4.90% of sperm. Diploidy and 4:0 disjunction, characterized by the same signal combination and thus indistinguishable, were seen in 0.70% of sperm. Other combinations of signals were observed in 1.20% of sperm heads.
|
|
A total of 1007 sperm were analysed in the second patient (P2). Of 99.01% of spermatozoa showing hybridization signals, 44.49% were normal/balanced and 55.51% abnormal. Adjacent 1 segregation was observed in 28.40% of sperm heads and adjacent 2 and 3:1 segregations occurred with equal frequencies (10.13% and 10.23%, respectively). Diploidy or 4:0 disjunction was seen in 0.20% of spermatozoa and 6.55% of sperm showed other combinations of signals.
A total of 1010 sperm were scored in the patient P3, all having hybridization signals. Of these, 44.55% were normal/balanced and 55.45% were abnormal. The incidence of adjacent 1 segregation was 30.00%, followed by adjacent 2 (15.35%) and 3:1 segregations (8.32%). Diploidy or 4:0 disjunction was seen in 0.30% of sperm. Other combinations of signals were observed in 1.49% of sperm heads.
Alternate segregation was the most frequent in all three patients, followed by adjacent 1, adjacent 2 and 3:1 segregations in P1 and P3. Similar frequencies of adjacent 2 and 3:1 segregations were observed in P2. Significantly higher frequencies of alternate segregation and less adjacent 1 and 3:1 segregation products were observed in P1 compared with the other two men (P < 0.01). There were no statistically significant differences in the frequencies of alternate adjacent 1 and 3:1 segregations between P2 and P3, but P2 showed significantly fewer sperm with adjacent 2 segregation compared with P3 (P < 0.01). The frequency of adjacent 2 segregations was similar in patients P1 and P3 and significantly different from P2 results (P < 0.01).
The complementary products were produced in 1:1 ratio for adjacent 1 and adjacent 2 segregations in all the three patients, with the exception of higher frequency of AAB versus BCC phenotype in P1 (P < 0.05). The AAB and BCC phenotypes are also produced when interstitial recombination does not occur. Their frequencies were significantly higher than the sum of their complementary recombinant phenotypes in P1 and P3 (P < 0.01). The BCC phenotype was also significantly more frequent than both the recombinant products in P2 (P < 0.01), but the frequency of AAB phenotype and the sum of frequencies of AA and AABB were not statistically different from the 1:1 ratio. Recombinant products from adjacent 2 segregation were recognizable by sperm FISH, as four unique fluorescent phenotypes were produced by interstitial recombination. There was no inter-individual difference in the total frequency of recombinant gametes or in the frequency of single interstitial recombination on chromosome 11 or 18 among our three patients. Within individuals, a significantly higher frequency of interstitial recombination events in chromosome 11 versus chromosome 18 was observed in patient P3 (P < 0.01).
There were significant differences among the rates of most complementary products from 3:1 segregation in all the three patients, generally with hypohaploid sperm being more frequent than hyperhaploid. Equal numbers of 3:1 tertiary and 3:1 interchange modes of segregation were found in all patients investigated. A significant excess of hypohaploid sperm containing the normal chromosome 11 compared with the der(11) was observed (P < 0.05 in P1, P < 0.01 in P2 and P3). On the contrary, hypohaploid sperm containing the translocated chromosome 18 were significantly more frequent than the normal chromosome 18 in P1 and P2 (P < 0.01). There was a similar trend in P3, but it was not statistically significant.
The frequency of 4:0 segregation or diploid spermatozoa was similar in the three carriers.
Interchromosomal effect
The results are summarized in Tables III and IV. Patient P2 differed significantly from both P1 and P3 with respect to the frequency of XY sperm (P < 0.01) and 8–8 disomy (P < 0.01). Moreover, he showed significantly fewer sperm with both MI (metaphase I) (P < 0.05) and MII (metaphase II) (P < 0.01) diploidy than P3. Patient P1 showed significantly more sperm disomic for chromosome 21 (P < 0.05) compared with P2 and P3. The XY disomy, produced in MI, was significantly more frequent than the sum of MII sex chromosomal disomies (P < 0.01) in patients P1 and P3. A significant excess of MI diploidy (XY88) versus MII diploidy (XX88 and YY88) was observed in P1 (P < 0.01) and P2 (P < 0.05). Some spermatozoa with other hyperdiploid genotypes were observed in P1 and P3. There were no significant differences concerning the 7–7 disomy among the three patients.
|
|
The existence of an ICE on chromosomes X, Y, 8 and 21 was tested by statistical comparison of the FISH results in translocation carriers with previously published results in a control group of ten young healthy normospermic men (Rubes et al., 2005
). We found a significantly higher frequency of YY (P < 0.05), XY (P < 0.01) and diploid sperm (P < 0.01) in the group of translocation carriers (this study) compared with the control group. A significant difference in the frequency of MII diploidy was observed between the group of translocation carriers and the controls (P < 0.05), but there was no difference in the frequency of MI diploidy. Comparing the results obtained in individual translocation carriers with the mean frequencies of numerical abnormalities observed in the control donors, patient P1 exhibited a higher frequency of YY (P < 0.05), XY (P < 0.01) and diploid sperm (P < 0.01), as did P3 (all P < 0.01). An excess of MI diploidy compared with the control group was observed in both P1 and P3 (P < 0.05), while patient P3 also showed a higher frequency of MII diploidy (P < 0.01). An ICE on chromosome 7 was tested by comparing the FISH results obtained in translocation carriers with data on disomy frequency of chromosome 7 published by other authors using similar strict scoring criteria (see Table IV). The frequency of disomy 7 observed in the group of translocation carriers (this study) was similar to the published results in P3 and lower in P1 and P2.
|
Discussion |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
Men heterozygous for a reciprocal translocation produce a considerable amount of chromosomally unbalanced gametes due to segregation of chromosomes involved in the translocation. In contrast with Robertsonian translocations, most reciprocal translocations are unique. A recurrent occurrence is described almost exclusively within a family, when the translocation is inherited from parents. The only exception is a common translocation t(11;22)(q23;q11) recurrently found in unrelated families (Boué and Gallano, 1984
; Youings et al., 2004). We discuss sperm FISH results obtained in carriers of two balanced reciprocal translocations involving the same chromosomes and their arms, but with different breakpoints: t(11;18)(q23;q23) and t(11;18)(q22;q21.3).
Our results revealed a prevalence of alternate segregation followed by adjacent 1, adjacent 2, 3:1 and other segregants in all three patients studied. It is impossible to establish the exact frequencies of alternate and adjacent 1 segregations, if recombination occurs in the interstitial segments; however crossing over presumably produces equal numbers of both recombinant alternate and adjacent 1 genotypes. The aggregate frequency of gametes originating from alternate and adjacent 1 segregations was similar in P2 and P3, who are carriers of the same translocation (72.89% in P2, 74.55% in P3), but significantly higher in P1 (79.20%) due to a significant excess of normal/balanced sperm. Significantly higher frequency of alternate segregation and less adjacent 1 and 3:1 segregation products were observed in P1 compared with the other two men. More adjacent 2 segregation products were expected in P2 and P3 than in P1 according to Faraut et al. (2000) who stated that the frequency of adjacent 2 segregants varies inversely with the length of the shorter centric segment. However, patients P1 and P3 produced similar numbers of gametes showing adjacent 2 segregation. Significantly lower frequency of adjacent 2 sperm was observed in P2 than in the other two men, which is comparable with the frequency of 3:1 segregation in this patient. This was also the only difference between segregation in P2 and P3, who are carriers of the same translocation. As a higher frequency of sperm showing ambiguous signals (6.55%) was also observed in P2, further impairment of meiosis could act in this patient, unrecognizable due to technical limitations of the FISH method. Significantly more adjacent 2 segregation products containing centromeres of chromosome 11 than centromeres of chromosome 18 were observed in P1; that was caused by the 1.5:1 ratio of AAB:bCC phenotypes. Concerning the complementary products of 3:1 disjunction, most hypohaploid products were significantly more frequent than complementary hyperhaploid gametes in all three patients. Similar divergence in frequencies of complementary products from the 1:1 ratio was observed previously by other investigators (Rousseaux et al., 1995; Van Hummelen et al., 1997; Blanco et al., 1998; Estop et al., 1998, 1999; Honda et al., 1999; Oliver-Bonet et al., 2001; Geneix et al., 2002; Anton et al., 2004; Morel et al. 2004b,c). Some explanations of these observations were proposed, including technical factors such as hybridization efficiency, superposition of signals or the application of strict scoring criteria wherein two signals of the same color placed closer than a distance of one signal diameter are scored as one signal, unresolved chiasmata leading to the production of other abnormal genotypes, differential viability of spermatocytes and spermatids with abnormal chromosome content, or post-meiotic selection of some genotypes through maturation arrest.
Our data are in accordance with results of other studies. Generally, similar segregation profiles with some significant differences were observed in most studies dealing with meiotic segregation in sperm of human translocation carriers, who are family relatives (Estop et al., 1992; Rousseaux et al., 1995; Cora et al., 2002; Morel et al., 2004b; Anton et al., 2004; Wiland et al., 2007), as well as in carriers of two different reciprocal translocations involving the same chromosomes (Honda et al., 1999). On the other hand, different meiotic segregation patterns were published in other pairs of carriers of different translocations involving the same chromosomes (Estop et al., 1995; Cifuentes et al., 1999; Escudero et al., 2000a). Also concerning the common translocation t(11;22), segregation profiles reported in different studies are inconsistent (Martin 1984; Estop et al., 1999; Van Assche et al., 1999; Escudero et al., 2003; Anton et al., 2004). The observed inter-individual variability could be caused by genetic background and by submicroscopical differences in location of breakpoints in apparently identical rearrangements.
Interchromosomal effect
The question of possible ICE of translocations still remains controversial. The principle of ICE is based on the interaction of quadrivalents with sex chromosomes and partially asynapsed bivalents.
Aneuploidy frequencies for chromosomes X, Y, 7, 8 and 21 were assessed in our three translocation carriers. The frequencies of most disomy categories and also of diploidy were lower in P2 than in P1 and P3. Patients P1 and P3 exhibited only minor differences. The differences observed between P2 and P3 could be partially explained by the higher age of P3, as we previously observed an age-dependent increase in frequency of XY sperm, 8–8 and YY disomy and diploidy (Rubes et al., 2005). When the group of translocation carriers was compared with the group of control donors, significantly higher frequency of YY, XY and diploid sperm was observed in the group of carriers; that was caused especially by higher frequency of these abnormalities in P1 and P3. The significant excess of MI versus MII diploidy found in P1 and P2, together with the fact that XY disomy was significantly more frequent than the sum of MII sex chromosomal errors in P1 and P3, implies that the first part of the meiotic process might be more affected in translocation carriers.
Disomy of a variety of chromosomes was examined previously in FISH studies dealing with possible ICE of translocations. Most authors included probes for sex chromosomes and chromosome 21, since these disomies are the most common of the numerical abnormalities (reviewed by Shi and Martin, 2000; Templado et al., 2005). Positive ICE was observed in some translocation carriers but in others it was not detected (summarized in Douet-Guilbert et al., 2005). A correlation between manifestations of ICE of translocations and the fertility of their carriers was demonstrated by Pellestor et al. (2001) and Vegetti et al. (2000). The great interindividual and interchromosomal variability observed in ICE studies may be related to specific meiotic relationships of the individual structural rearrangements, especially on physical proximity of particular chromosomal parts during MI pairing.
Concerning t(11;18), synaptonemal complexes were analysed in a male carrier of t(11;18)(q13.3;q23) by electron microscopy (Liu et al., 2003). Asynapses and partially heterologous synapses of quadrivalent chromosomes were found in most pachytene spermatocytes but no association between the quadrivalent and sex chromosomes or other bivalents was observed.
The ascertainment of the frequency of unbalanced gametes can help to establish a reproductive prognosis in individual cases and provides a reasonable assessment of the chances for having a normal or balanced embryo (Escudero et al., 2000b; 2003). The differences in total frequency of abnormal sperm (40.1, 55.51 and 55.45% in P1, P2 and P3, respectively) do not seem to be so high. But a striking difference appears by application of a predictive equation proposed by Escudero et al. (2003), giving to P1 more than a twofold chance of successful conception of a normal infant (21.19% of abnormal embryos proposed in P1 compared with 50.47 and 50.36% in P2 and P3, respectively). The translocation t(11;18)(q23;q23) found in P1, characterized by relatively small translocated segments, entails a greater risk of birth of an affected infant due to an unbalanced status of translocation (Cans et al., 1993).
|
Conclusion |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
In conclusion, meiotic segregation analysis by FISH in sperm as well as aneuploidy analysis for at least X and Y chromosomes enables us to establish a reproductive prognosis in individual cases and to provide appropriate genetic counseling. A possible role of individual genetic background and epigenetic factors in the meiotic segregation process remain to be understood.
|
Funding |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
This study was supported by the Czech Ministry of Agriculture (MZE 0002716201).
|
Acknowledgements |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
We are very grateful to Sally D. Perreault (U.S. EPA, RTP, NC) for reviewing the manuscript.
|
References |
|---|
|
TopAbstractIntroductionMaterial and MethodsResultsDiscussionConclusionFundingAcknowledgementsReferences |
|---|
Anton E, Vidal F, Egozcue J, Blanco J. Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothers. Reprod Biomed Online (2004) 9:637–644.[Web of Science][Medline]
Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res (2005) 111:281–290.[CrossRef][Web of Science][Medline]
Blanco J, Egozcue J, Clusellas N, Vidal F. FISH on sperm heads allows the analysis of chromosome segregation and interchromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13). Cytogenet Cell Genet (1998) 83:275–280.[CrossRef][Web of Science][Medline]
Boué A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diag (1984) 4:45–67.[CrossRef][Web of Science][Medline]
Cans C, Cohen O, Lavergne C, Mermet MA, Demongeot J, Jalbert P. Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations. Hum Genet (1993) 92:598–604.[CrossRef][Web of Science][Medline]
Cifuentes P, Navarro J, Blanco J, Vidal F, Miguez L, Egozcue J, Benet J. Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation. Eur J Hum Genet (1999) 7:231–238.[CrossRef][Web of Science][Medline]
Cora T, Acar H, Kaynak M. Molecular cytogenetic detection of meiotic segregation patterns in sperm nuclei of carriers of 46,XY,t(15;17)(q21; q25). J Androl (2002) 23:793–798.
De Mas P, Daudin M, Vincent MC, Bourrouillou G, Calvas P, Mieusset R, Bujan L. Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum Reprod (2001) 16:1204–1208.
Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, Braekeleer MD, Morel F. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl (2005) 28:372–379.[CrossRef][Web of Science][Medline]
Downie SE, Flaherty SP, Swann NJ, Matthews CD. Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization. Mol Hum Reprod (1997) 3:815–819.
Escudero T, Lee M, Sandalinas M, Munne S. Female gamete segregation in two carriers of translocations involving 2q and 14q. Prenat Diagn (2000) a 20:235–237.[CrossRef][Web of Science][Medline]
Escudero T, Lee M, Carrel D, Blanco J, Munne S. Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn (2000) b 20:599–602.[CrossRef][Web of Science][Medline]
Escudero T, Abdelhadi I, Sandalinas M, Munne S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril (2003) 79(Suppl. 3):1528–1534.[CrossRef][Web of Science][Medline]
Estop AM, Levinson F, Cieply K, Vankirk V. The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation. Hum Genet (1992) 89:425–429.[Web of Science][Medline]
Estop AM, Van Kirk V, Cieply K. Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7) and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet Cell Genet (1995) 70:80–87.[Web of Science][Medline]
Estop AM, Cieply KM, Wakim A, Feingold E. Meiotic products of two reciprocal translocations studied by multicolor fluorescence in situ hybridization. Cytogenet Cell Genet (1998) 83:193–198.[CrossRef][Web of Science][Medline]
Estop AM, Cieply KM, Munne S, Feingold E. Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet (1999) 104:412–417.[CrossRef][Web of Science][Medline]
Faraut T, Mermet MA, Demongeot J, Cohen O. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet Cell Genet (2000) 88:15–21.[CrossRef][Web of Science][Medline]
Geneix A, Schubert B, Force A, Rodet K, Briancon G, Boucher D. Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: case report. Hum Reprod (2002) 17:325–331.
Härkönen K, Suominen J, Lahdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl (2001) 24:197–205.[CrossRef][Web of Science][Medline]
Honda H, Miharu N, Ohashi Y, Honda N, Hara T, Ohama K. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet (1999) 105:428–436.[CrossRef][Web of Science][Medline]
Lähdetie J, Saari N, Ajosenpaa-Saari M, Mykkanen J. Incidence of aneuploid spermatozoa among infertile men studied by multicolor fluorescence in situ hybridization. Am J Med Genet (1997) 11:115–121.
Lejeune J. Autosomal disorders. Pediatrics (1963) 32:326–337.
Liu JY, Wang XR, Zeng XL, Zhang CS, Hao S, Song YC. Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18)(q13.3;q23) associated with pregnacy wastage. Cytogenet Genome Res (2003) 103:8–13.[CrossRef][Web of Science][Medline]
Martin RH. Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Clin Genet (1984) 25:357–361.[Web of Science][Medline]
Mercier S, Morel F, Fellman F, Roux C, Bresson JL. Molecular analysis of the chromosomal equipment in spermatozoa of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization. Hum Genet (1998) 102:446–451.[CrossRef][Web of Science][Medline]
Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Amice V, Amice J, De Braekeleer M. Meiotic segregation of translocations during male gametogenesis. Review. Int J Androl (2004) a 27:200–212.[CrossRef][Web of Science][Medline]
Morel F, Douet-Guilbert N, Roux C, Tripogney C, Le Bris MJ, De Braekeleer M, Bresson JL. Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers. Fertil Steril (2004) b 81:682–685.[CrossRef][Web of Science][Medline]
Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Marchetti C, Lefebvre V, Delobel B, Amice V, Amice J, De Braekeleer M. Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: case report. Hum Reprod (2004) c 19:2227–2230.
Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Aarhus, Denmark. Hum Genet (1991) 87:81–83.[CrossRef][Web of Science][Medline]
Oliver-Bonet M, Navarro J, Codina-Pascual M, Carrera M, Egozcue J, Benet J. Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei. Eur J Hum Genet (2001) 9:395–403.[CrossRef][Web of Science][Medline]
Pellestor F, Imbert I, Andreo B, Lefort G. Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod (2001) 16:1155–1164.
Rickards GK. Orientation behavior of chromosome multiples of interchange (reciprocal translocation) heterozygotes. Review. Annu Rev Genet (1983) 17:443–498.[CrossRef][Web of Science][Medline]
Robbins WA, Segraves R, Pinkel D, Wyrobek AJ. Detection of Aneuploid Human Sperm by Fluorescence In situ Hybridization - Evidence for a Donor Difference in Frequency of Sperm Disomic for Chromosomes-I and Chromosomes-Y. Am J Hum Genet (1993) 52:799–807.[Web of Science][Medline]
Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Devillard F, Lespinasse J, Sele B. Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization. Cytogenet Cell Genet (1995) 71:240–246.[Web of Science][Medline]
Rubes J, Vozdova M, Oracova E, Perreault SD. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res (2005) 111:229–236.[CrossRef][Web of Science][Medline]
Rudak E, Jacobs PA, Yanagimachi R. Direct analysis of the chromosome constitution of human spermatozoa. Nature (1978) 274:911–913.[CrossRef][Medline]
Shi Q, Martin RH. Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet (2000) 90:219–226.[CrossRef][Web of Science][Medline]
Templado C, Bosch M, Benet J. Frequency and distribution of chromosome abnormalities in human spermatozoa. Cytogenet Genome Res (2005) 111:199–205.[CrossRef][Web of Science][Medline]
Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod (1999) 5:682–690.
Van Hummelen P, Manchester D, Lowe X, Wyrobek AJ. Meiotic Segregation, Recombination, and Gamete Aneuploidy Assessed in a t(1;10)(p22.1;q22.3) Reciprocal Translocation Carrier by Three- and Four-Probe Multicolor FISH in Sperm. Am J Hum Genet (1997) 61:651–659.[Web of Science][Medline]
Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, Liebaers I, Van Steirteghem A. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod (2000) 15:351–365.
Wiland E, Midro A, Panasiuk B, Kurpisz M. The analysis of meiotic segregation patterns and aneuploidy in the spermatozoa of father and son with translocation t(4;5)(p15.1;p12) and the prediction of the individual probability rate for unbalanced progeny at birth. J Androl (2007) 28:262–272.
World Health Organization:. WHO Laboratory Manual for the Examination of Human Semen and Semen–cervical Mucus Interaction (1999) Cambridge, UK: Cambridge University Press.
Youings S, Ellis K, Ennis S, Barber J, Jacobs P. A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet (2004) 126A:46–60.
Submitted on June 29, 2007; resubmitted on August 27, 2007; accepted on September 26, 2007.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  R.H. Martin Cytogenetic determinants of male fertility Hum. Reprod. Update, June 4, 2008; (2008) dmn017v1. [Abstract] [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||