[无精子症、少精子症或弱精子症的特发性不育男性中KLHL-10的突变]
[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
作者信息
Qiu Qing-Ming, Liu Gang, Li Wei-Na, Shi Qiu-Wen, Zhu Fu-Xi, Lu Guang-Xiu
机构信息
Institute of Human Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China.
出版信息
Zhonghua Nan Ke Xue. 2009 Nov;15(11):974-9.
OBJECTIVE
To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.
METHODS
Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques.
RESULTS
A novel heterozygous mutation (C88 --> A) was identified in exon 1 from 1 oligospermia patient and 3 fertile male controls and another one (C424 --> A) confirmed in exon 2 from 4 fertile controls, 3 oligospermia patients and 1 asthenospermia man. Both of the mutations were synonymous, but neither missense mutation nor microdeletion of the KLHL-10 gene was found.
CONCLUSION
The KLHL-10 gene is not a major contributor to azoospermia, oligospermia or asthenospermia in Chinese population. The value of this gene in the diagnosis of male infertility remains to be further investigated.
目的
探讨生精相关基因KLHL - 10突变与无精子症、少精子症和弱精子症的关系。
方法
从325例特发性无精子症患者（n = 11）、少精子症患者（n = 196）或弱精子症患者（n = 118）以及100例有生育能力的男性对照者的外周血样本中提取基因组DNA。采用聚合酶链反应（PCR）、变性高效液相色谱（DHPLC）和测序技术检测所有DNA样本中的KLHL - 10突变。
结果
在1例少精子症患者和3例有生育能力的男性对照者的外显子1中鉴定出一种新的杂合突变（C88→A），在4例有生育能力的对照者、3例少精子症患者和1例弱精子症患者的外显子2中确认了另一种突变（C424→A）。两种突变均为同义突变，但未发现KLHL - 10基因的错义突变或微缺失。
结论
在中国人群中，KLHL - 10基因不是无精子症、少精子症或弱精子症的主要致病因素。该基因在男性不育诊断中的价值仍有待进一步研究。
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