Hum. Reprod. Advance Access originally published online on April 25, 2008
Human Reproduction 2008 23(7):1669-1678; doi:10.1093/humrep/den124
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number
1 University Department of Growth and Reproduction, Rigshospitalet, Section GR-5064, Blegdamsvej 9, DK-2100 Copenhagen, Denmark 2 Human Developmental Genetics, Institut Pasteur, 25 rue du Dr Roux, 75724, Paris, France 3 The Fertility Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark
4 Correspondence address. Tel: +45-3545-5017/8145; Fax: +45-3545-6054; E-mail: erm{at}rh.regionh.dk
BACKGROUND: Deletions in the azoospermia factor (AZF) region of the Y chromosome are frequent in infertile men. The clinical consequences and the mode of inheritance of these deletions are not yet clear.
METHODS: Y chromosome deletion mapping and quantitative PCR analysis of the DAZ-gene copy number, supplemented with haplogroup typing in deleted patients, were performed, in combination with clinical assessments in 264 fathers and their sons conceived by assisted reproduction techniques (ART), and in 168 fertile men with normal sperm concentration.
RESULTS: In the ART fathers group, a complete AZFc deletion was detected in 0.4% (1/264). AZFc rearrangements/polymorphisms were found in 6.8% (18/264; 95% CI: 4.4–10.5), which was significantly more frequent (P = 0.021) than in the controls (3/168; 1.8%, 95% CI: 0.6–5.1). All deletions were transmitted to the sons, without any clinical symptoms in early childhood. In the fathers, there was no significant correlation between the DAZ copy number and the severity of spermatogenic failure.
CONCLUSIONS: AZFc rearrangements/polymorphisms are transmitted to sons and may represent a risk factor for decreased testis function and male subfertility, which needs confirmation in further studies in larger cohorts. However, deletions of two DAZ gene copies are compatible with normal spermatogenesis and fertility.
Key words: gr–gr deletion/b2–b3 deletion/AZFc/Y chromosome/ART
Submitted on April 22, 2007; resubmitted on February 24, 2008; accepted on March 21, 2008.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  Y. Yamauchi, J. M. Riel, S. J. Wong, O. A. Ojarikre, P. S. Burgoyne, and M. A. Ward Live Offspring from Mice Lacking the Y Chromosome Long Arm Gene Complement Biol Reprod, August 1, 2009; 81(2): 353 - 361. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Juul, K. Sorensen, L. Aksglaede, I. Garn, E. Rajpert-De Meyts, I. Hullstein, P. Hemmersbach, and A. M. Ottesen A Common Deletion in the Uridine Diphosphate Glucuronyltransferase (UGT) 2B17 Gene Is a Strong Determinant of Androgen Excretion in Healthy Pubertal Boys J. Clin. Endocrinol. Metab., March 1, 2009; 94(3): 1005 - 1011. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Nyboe Andersen, E. Carlsen, and A. Loft Trends in the use of intracytoplasmatic sperm injection marked variability between countries Hum. Reprod. Update, November 1, 2008; 14(6): 593 - 604. [Abstract] [Full Text] [PDF]
|
|