Genotyping of Israeli infertile men with idiopathic oligozoospermia

• Published in: Clinical genetics Vol. 62; no. 3; pp. 203 - 207
• Main Authors: Madgar, I, Green, L, Kent-First, M, Weissenberg, R, Gershoni-Baruch, R, Goldman, B, Friedman, E
• Format: Journal Article
• Language: English
• Published: Oxford, UK Munksgaard International Publishers 01.09.2002; Blackwell
• Subjects: Adult; Androgen receptor; Biological and medical sciences; Birth control; Chromosomes, Human, Y - genetics; genetic factors; Genotype; Gynecology. Andrology. Obstetrics; Humans; Israel - epidemiology; Male; male infertility; Medical sciences; Middle Aged; Oligospermia - epidemiology; Oligospermia - genetics; Sequence Deletion; Sterility. Assisted procreation; Tropical medicine; Y chromosome microdeletions; Israel; Human; Pathogenesis; Repeated sequence; Trinucleotide; Idiopathic; Genotype; Y-Chromosome; Genetic determinism; Semen disorders; Oligospermia; Gene; Androgen receptor; Male sterility; Mutation; Male genital diseases
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.2002.620303.x

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.