Y Chromosome (Yq11) Microdeletions in Idiopathic Azoospermia

IF 1.8 3区医学 Q3 UROLOGY & NEPHROLOGY

International Journal of Urology Pub Date : 2007-07-01 DOI:10.1111/j.1442-2042.1997.tb00170.x

Toshiro Shirakawa, Masato Fujisawa, Masanori Kanzaki, Hiroshi Okada, Soichi Arakawa, Sadao Kamidono

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引用次数: 6

Abstract

Background Cytogenetic anomalies and molecular deletions of the Y chromosome in idiopathically sterile men suggest that genetic factor(s) controlling spermatogenesis are located in the distal portion of Yq11. We studied Y chromosome microdeletions in the Yq11.23 region in idiopathic azoospermia.

Methods We studied 25 azoospermic male patients with a cytogenetically normal 46XY karyotype; 1 3 exhibited Sertoli-cell-only syndrome and 12 exhibited maturation arrest. Microdeletions in the Yql 1 region were examined using the PCR technique with 4 pairs of primers from DNA loci in Yq11.23.

Results Microdeletions in Yq11.23 were detected in 4 of the 25 azoospermic men. The most common deletion was of the Y6HP52pr sequence, which was detected in 3 of 13 men with Sertoli-cell-only syndrome but in only 1 of 12 with maturation arrest.

Conclusion Detection of microdeletions within the Yq11 sequence is an important clue to the genetic factor(s) underlying azoospermia.

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特发性无精子症患者Y染色体(Yq11)微缺失

特发性不育男性Y染色体的细胞遗传学异常和分子缺失表明，控制精子发生的遗传因素位于Yq11的远端部分。我们研究了特发性无精子症患者Y染色体Yq11.23区域的微缺失。方法对25例细胞遗传学正常的46XY核型男性无精子患者进行研究;13例表现为单纯支持细胞综合征，12例表现为成熟阻滞。用4对引物对Yq11.23的DNA位点进行PCR检测yq1区域的微缺失。结果25例无精子男性中有4例检测到Yq11.23基因微缺失。最常见的缺失是Y6HP52pr序列，13名仅支持细胞综合征患者中有3名检测到该缺失，但12名成熟阻滞患者中只有1名检测到该缺失。结论检测Yq11序列微缺失是研究无精子症遗传因素的重要线索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Urology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

11.50%

发文量

340

审稿时长

3 months

期刊介绍： International Journal of Urology is the official English language journal of the Japanese Urological Association, publishing articles of scientific excellence in urology. Submissions of papers from all countries are considered for publication. All manuscripts are subject to peer review and are judged on the basis of their contribution of original data and ideas or interpretation.