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Hum. Reprod. Advance Access originally published online on July 29, 2004
Human Reproduction 2004 19(9):2084-2087; doi:10.1093/humrep/deh382
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Human Reproduction vol. 19 no. 9 © European Society of Human Reproduction and Embryology 2004; all rights reserved

CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility

Tanja Kunej1, Natasa Teran1, Branko Zorn2 and Borut Peterlin1,3

1 Division of Medical Genetics and 2 Andrology Centre, Department of Obstetrics and Gynecology, University Medical Centre, 1000 Ljubljana, Slovenia

3 To whom correspondence should be addressed. Email: borut.peterlin{at}guest.arnes.si

BACKGROUND: Polymorphism in the CTG triplet number in the myotonic dystrophy type 1 (DM1PK) gene has been proposed as being associated with idiopathic azoospermia. The aim of this study was to investigate whether the CTG trinucleotide amplification in the DM1PK gene is associated with male subfertility. METHODS: We evaluated 107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n=38) and oligoasthenoteratozoospermia (OAT) (n=69), and 102 men with proven fertility. Main outcome measures were CTG repeat size in the DM1PK gene, testicular volume, sperm concentration, rapid progressive motility, normal morphology, serum FSH levels, testicular histology and Johnsen score. RESULTS: In subfertile males, no minimal mutation or mutation carriers were found. The difference in the number of CTG repeat lengths between the groups was not statistically significant (P=0.825). There was no correlation between the number of CTG repeats and the clinical parameters of subfertile patients: testicular volume, sperm concentration, rapid progressive motility, normal morphology, FSH level, testicular histology and Johnsen score. CONCLUSIONS: The number of CTG repeats in the normal or mutational range of DM1PK gene is associated with neither idiopathic male subfertility nor with clinical characteristics of male subfertility.

Key words: azoospermia/CTG repeats/DM1PK gene/male subfertility/myotonic dystrophy type 1 (DM1)


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B. Peterlin, B. Zorn, M. Volk, and T. Kunej
Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility
Mol. Hum. Reprod., December 1, 2006; 12(12): 777 - 779.
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