© Kamla-Raj 2004                                                                    Int J Hum Genet, 4(3): 179-185  (2004)

 

 

A Study of Y Chromosome Microdeletions in

Infertile Indian Males

 

Arundhati S. Athalye, Prochi F. Madon, Nandkishor J. Naik, Dattatray J. Naik,

Smita S. Gavas, Suresh B. Dhumal, Vijay M. Bandkar,

Mahadev T. Kawle and Firuza R. Parikh

 

Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Center, 15, Dr. G. Deshmukh Marg, Mumbai 400 026, Maharashtra, India

E-mail: prochimadon@hotmail.com

 

Keywords Male infertility; ICSI; semen analysis; PGD; AZF deletions; azoospermia; OAT

 

Abstract Male partners of infertile couples are known to frequently have abnormal semen parameters. Some of these cases are due to underlying genetic factors such as Y chromosome microdeletions, an abnormal karyotype or cystic fibrosis mutations. Y chromosome microdeletions generally cannot be detected by karyotyping. At our clinic we undertook a study of male partners of infertile couples to determine the frequency and common loci of Y chromosome microdeletions in India, using the PCR technique. We studied 100 patients mainly having azoospermia (AZ) or oligoasthenoteratozoospermia (OAT). Multiplex PCR analysis for 18 loci on the Y chromosome was carried out using commercially available kit (Promega Version 1.1). Y chromosome microdeletions were observed in 12/100 (12%) patients including 8/27 (29.63%) with azoospermia, 3/56 (5.35%) with oligoasthenoteratozoospermia and 1/7 (14.28%) with only asthenoteratozoospermia. All loci of the DAZ gene were deleted along with DYS237 and DYS236 from AZFd in 5/27 (18.52%) azoospermic males studied. The most commonly deleted loci were DYS240 in 11/12 (91.67%) and DYS219 in 7/12 (58.33%) patients with microdeletions. The use of ICSI in such patients can lead to transmission of Y chromosome microdeletions and subsequent infertility from father to son. Hence screening for Y chromosome microdeletions will help in the proper counseling and management of couples with male factor infertility.

 


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