Wang Wei-Ping, Cui Ying-Xia
PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Command, PLA, Nanjing, Jiangsu 210002, China.
Zhonghua Nan Ke Xue. 2007 Dec;13(12):1117-20.
Microdeletions of the Y chromosome are a most common known genetic cause of spermatogenetic failure in infertile men. Recent studies have revealed the existence of genetic factors in the long arm of the Y chromosome Yq11.23, known as azoospermia factors (AZF), which are further divided into three separate regions including AZFa, AZFb and AZFc. The AZF deletions are due to different recombination between large palindromic sequences during mesophase. Microdeletions of different AZF regions cause different degrees of spermatogenic impairment. The present paper reviews the clinical significance and relevant laboratory techniques of detecting AZF of the Y chromosome.
Y染色体微缺失是已知的不育男性精子发生障碍最常见的遗传原因。最近的研究揭示了Y染色体长臂Yq11.23上存在遗传因子，即无精子症因子（AZF），其进一步分为三个独立区域，包括AZFa、AZFb和AZFc。AZF缺失是由于减数分裂期大回文序列之间的不同重组所致。不同AZF区域的微缺失会导致不同程度的生精功能损害。本文综述了检测Y染色体AZF的临床意义及相关实验室技术。
