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Y染色体上含有与男性性腺发育和精子发生及分化密切相关的基因。无精子症因子(AZF)是位于Y染色体长臂远端的精子发生调控基因,它的缺失会导致精子发生障碍进而引发男性不育。目前大多数人将AZF分为AZFa、AZFb、AZFc三个区域,也有人认为AZFb和AZFc之间应该增加一个新的区域并命名为AZFd。不同分区的缺失会引起不同的表型。其中,AZFc缺失作为目前最常见的缺失类型被广泛的研究。AZFc缺失包括了AZFc全缺失和AZFc部分缺失,AZFc部分缺失主要为gr/gr缺失和b2/b3缺失。gr/gr缺失在某些地区或人种中引起男性生精障碍的作用已经被证实,b2/b3缺失对生精障碍的影响目前尚无定论,但是它在单倍群N中的普遍分布这一现象也引发了人们的深入思考。本文对AZF不同区域尤其是AZFc区的基本结构、候选基因、缺失情况以及与精子发生的关系作一综述,旨在为临床产前诊断及男性不育治疗提供理论依据。
The Y chromosome contains genes that are closely related to male gonadal development and spermatogenesis and differentiation. Azoospermia factor (AZF) is a spermatogenesis regulator located distal to the long arm of the Y chromosome, and its absence causes spermatogenesis that can lead to male infertility. At present, most people divide AZF into three regions: AZFa, AZFb and AZFc. Some people think that a new region should be added between AZFb and AZFc and named it AZFd. The lack of different partitions can cause different phenotypes. Among them, AZFc deletion as the most common type of deletion is widely studied. AZFc deletion includes AZFc total deletion and AZFc partial deletion, AZFc partial deletion is mainly gr / gr deletion and b2 / b3 deletion. The role of the absence of gr / gr in provoking spermatogenic disorders in men has been demonstrated in some regions or populations. The effect of b2 / b3 loss on spermatogenic disorders is inconclusive at present but its general distribution in haplogroup N A phenomenon also triggered people’s deep thinking. This review summarizes the basic structure, candidate genes, deletions and the relationship with the spermatogenesis in different regions of AZF, especially in AZFc region, aiming to provide a theoretical basis for clinical prenatal diagnosis and male infertility treatment.