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近年来，人类性别的诊断已从既往的细胞遗传学为中心过渡到基于ＰＣＲ技术为中心的分子生物学水平的轨道上来，至今为止，ＰＣＲ靶扩增序列集中在Ｙ染色体长臂高度重复的３．４ｋｂ序列和Ｙ染色体短臂上的睾丸决定因子基因（ＳＲＹ）这两个ＤＮＡ序列。由于ＰＣＲ技术的引进，人类性别的诊断已达快速、简便和准确的程度，广泛用于性转换性疾病的研究、性别诊断和产前诊断以及体外受精胚胎种植前的性别诊断。但值得指出，经过近年来的研究已有充分的理由证明Ｙ染色体长臂上的３．４ｋｂ的重复序列不适于作为ＰＣＲ扩增靶序列来鉴定人类性别，然而在国内相当多的科研机构和基层医疗单位却沿用至今，鉴于这种现状，本文回顾了人类性别ＰＣＲ诊断的历史，着重介绍了国外目前性别ＰＣＲ诊断的现状。
In recent years, the diagnosis of human gender has shifted from previous cytogenetics to molecular biology based on PCR technology. So far, PCR target amplification sequences have focused on highly repetitive 3-long Y-arms .4kb sequence and the testis determinant gene (SRY) on the short arm of the Y chromosome. Due to the introduction of PCR technology, the diagnosis of human gender has reached a fast, simple and accurate degree. It is widely used in the study of sexually transmitted diseases, gender diagnosis and prenatal diagnosis, as well as the gender diagnosis before in vitro fertilization embryo implantation. However, it is worth pointing out that after the recent research, there are sufficient reasons to prove that the 3.4kb repetitive sequence on the long arm of Y chromosome is not suitable as a target for PCR amplification to identify human gender. However, quite a few research institutes and grassroots In view of this situation, this paper reviews the history of human gender PCR diagnosis and emphatically introduces the current status of gender PCR diagnosis in foreign countries.