摘要
近年的研究热点显示Y染色体遗传缺陷因素所致的男性生精障碍是不育的重要病因之一。人类基因组的成功测序认为Y染色体的同源性重组是微缺失的分子基础。现研究主要在AZF基因。现研究发现在Y染色体上的220个基因中,无精子症或少精子症患者位于Y染色体的长臂(Yq11)无精子因子(AZF)区的16个编码基因有缺失,是已知的导致男性不育的最主要的分子遗传病因。临床上常使用提纯周围血白细胞DNA加Y染色体特异性引物进行PCR扩增检测,为明确Y染色体基因的功能以及相互之间的联系及基因治疗奠定基础。
Recent researches have showed that male spermatogenic failure caused by the genetic defect of Y chromosome is one of the major causes of male infertility. The successful sequencing of Y chromosome uncovers that homologous recombinant is the molecular base of its microdeletion. The current researches focus mainly on the AZF genes. According to such researches, 16 coding genes located at AZF in the Y chromosomal long arm ( Yql 1 ) of all the 220 genes of Y chromosome are missing for patients with azoospermatism and oligospermatism, which has been demonstrated to be a main genetic disorder causing male infertility. PCR amplification test is often used with WBC DNA and Y chromosome specific primers to define the function of Y chromosome genes and their mutual relationships, laying the foundation of spermatogenesis.
出处
《中国性科学》
2014年第7期75-78,共4页
Chinese Journal of Human Sexuality
关键词
Y染色体缺失
男性不育
无精子因子
Y chromosome microdeletion
Male infertility
Azoospermia factor