BRCA2基因中的常见变异N372H可能与特发性无精子症或严重少精子症的男性不育有关。
The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.
作者信息
Zhoucun A, Zhang Sizhong, Yang Yuan, Ma Yongxin, Zhang Wei, Lin Li
机构信息
Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, National Key Laboratory of Biotherapy, Chengdu 610041, PR China.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2006 Jan 1;124(1):61-4. doi: 10.1016/j.ejogrb.2005.09.001. Epub 2005 Oct 27.
OBJECTIVE
To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
STUDY DESIGN
The study included 240 infertile patients with idiopathic azoospermia or severe oligozoospermia and 250 fathered controls. The allele and genotype frequencies of the polymorphism N372H in BRCA2 gene were investigated in both patients and controls using denaturing high performance liquid chromatography analysis (DHPLC).
RESULTS
The frequency of allele H of the polymorphism N372H in patients was significantly higher than that of the controls (23.5% versus 17.6%, OR = 1.49, 95% CI 1.06-1.97, P = 0.02) and the subjects bearing rare allele H (NH + HH) significantly increased in patients compared with controls (41.7% versus 32.4%, 95% CI 1.03-2.15, P = 0.03).
CONCLUSION
The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.
目的
探讨人类乳腺癌易感基因2（BRCA2）常见单核苷酸多态性N372H与特发性无精子症或严重少精子症男性不育之间的可能关联。
研究设计
该研究纳入了240例特发性无精子症或严重少精子症的不育患者以及250例有生育能力的对照者。采用变性高效液相色谱分析（DHPLC）对患者和对照者BRCA2基因多态性N372H的等位基因和基因型频率进行了研究。
结果
患者中多态性N372H的等位基因H频率显著高于对照者（23.5%对17.6%，OR = 1.49，95%可信区间1.06 - 1.97，P = 0.02），且与对照者相比，携带罕见等位基因H（NH + HH）的患者显著增多（41.7%对32.4%，95%可信区间1.03 - 2.15，P = 0.03）。
结论
本研究结果提示，BRCA2基因多态性N372H可能与特发性无精子症或严重少精子症男性不育有关。
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