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不育的夫妇约占育龄夫妇总数的10%～15%,其中男性因素约占50%以上。染色体畸变与Y染色体AZF微缺失是已知的两个主要的男性不育遗传学病因。近年来研究提示AZFc区的一些部分缺失类型可能是男性不育的高风险因子,且其生精表型与Y染色体单倍组存在关联。本文拟从Y染色体单倍组构成的遗传背景方面,综述Y染色体单倍组在AZFc区部分缺失及男性不育的发生中所起的作用。
Infertility couples account for about 10% to 15% of the total number of couples of childbearing age, of which male factors account for about 50%. Chromosomal aberrations and Y chromosome AZF microdeletions are two of the major known genetic causes of male infertility. Recent studies suggest that some partial deletion patterns of AZFc may be a high risk factor for male infertility, and the phenotype of the spermatozoa is associated with the Y chromosome haplotype. This article intends to review the role of the Y chromosome haplogroup in the partial deletion of AZFc and the occurrence of male infertility from the genetic background of the haplogroup Y chromosome.