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Y染色体上存在众多精子发生的相关基因。在Y染色体进化过程中形成可稳定遗传的碱基突变位点:SNP位点。根据Y染色体SNP位点不同,把全球人群分为153个单倍群(haplogroup)。大量研究显示,Y染色体无精子因子(azoospermia factor,AZF)区基因重组引起的缺失是导致男性不育的重要原因。常见的缺失类型为AZFa、AZFb、AZFc、AZFbc、AZFabc,以及AZFc区的部分缺失:gr/gr缺失、b2/b3缺失。目前研究表明,Y染色体单倍群不但与精子发生相关,而且与Y染色体微缺失相关,即某些单倍群易发生Y染色体微缺失而导致男性不育。
There are many genes associated with spermatogenesis on the Y chromosome. During the evolution of the Y chromosome, a stable and inherited base mutation site is formed: a SNP site. According to the Y chromosome SNP sites, the global population is divided into 153 haplogroups (haplogroups). Numerous studies have shown that deletion of the gene recombination in the azoospermia factor (AZF) region is a major cause of male infertility. Common deletions are partial deletions of AZFa, AZFb, AZFc, AZFbc, AZFabc, and AZFc regions: deletion of gr / gr and loss of b2 / b3. The present study shows that Y chromosome haplogroups not only related to spermatogenesis, but also with the Y chromosome microdeletions related to that some haplogroup prone to Y chromosome microdeletions and lead to male infertility.