Genotyping of Israeli infertile men with idiopathic oligozoospermia

Authors: Madgar I.¹; Green L.²; Kent-First M.³; Weissenberg R.¹; Gershoni-Baruch R.⁴; Goldman B.⁵; Friedman E.²

Source: Clinical Genetics, Volume 62, Number 3, September 2002 , pp. 203-207(5)

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Abstract:

Madgar I, Green L, Kent-First M, Weissenberg R, Gershoni-Baruch R, Goldman B, Friedman E. Genotyping of Israeli infertile men with idiopathic olig- azoospermia.

Clin Genet 2002: 62: 203–207. © Blackwell Munksgaard, 2002

Microdeletions of the long arm of the Y chromosome involving the azoospermia factor (AZF) region are associated with severe oligo- or azoospermia. Abnormal androgen receptor (AR) structure or function has also been implicated in male infertility. To assess the contribution of these genetic defects to male infertility, 61 Israeli men with severe oligo- (n = 15) or azoospermia (n = 46), were screened for Y chromosome microdeletions, and the AR-(CAG)_n repeat length. Fifty fertile Israeli men were similarly analyzed. PCR amplification of 20–54 simple tag sequences (STSs) located at Yq was used to determine the rate and extent of Y chromosome microdeletions. PCR with primers flanking the AR-(CAG)_n region and subsequent size fractionation on gradient acrylamide gels were used to determine AR-(CAG)_n length. Five azoospermic individuals (5/61–8.2% and 5/46–10.8% of azoospermic patients) displayed Y chromosome microdeletions. The mean CAG repeat number in infertile men was 18.6 ± 3.0 compared with 16.6 + 2.7 in fertile men (n = 50), a statistically significant difference (p = 0.003). Y chromosome microdeletions contribute to male infertility in our azoospermic population, and the mean length of the AR-CAG is significantly longer in our infertile population than in fertile men.

Keywords: Androgen receptor; genetic factors; male infertility; Y chromosome microdeletions

Language: English

Document Type: Original article

DOI: 10.1034/j.1399-0004.2002.620303.x

Affiliations: 1: Male Infertility Unit, 2: Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel 3: Promega Corporation Madison, WI, USA 4: The Genetics Institute, Rambam Medical Center and the Bruce Rappaport School of Medicine, the Technion, Haifa, Israel 5: the Danek Gertner Genetics Institute and the *