46,XX男性综合征分子遗传学机制研究进展  

Research progress on molecular genetics mechanism of 46,XX male syndrome

作　　者：吴艳花 陈英剑 WU Yan-hua;CHEN Ying-jian(Department of Laboratory Medicine,the 960th Hospital of PLA,Jinan,Shandong 250031,China)

机构地区：[1]解放军第960医院实验诊断科

出　　处：《实用医药杂志》2019年第12期1142-1146,共5页Practical Journal of Medicine & Pharmacy

摘　　要：46,XX男性综合征是一种罕见的性分化异常疾病,在新生儿中的发生率约为1/20000。此类患者大多为正常男性表型,多在婚后多年不育就诊过程中发现。从分子生物学角度,根据SRY基因的存在与否可将46,XX男性综合征分为SRY阳性和SRY阴性两型;前者的产生多与其父亲减数分裂过程中SRY基因的易位相关,而后者的发生机制目前尚不明确。笔者就46,XX男性的分子分型及潜在的分子遗传学机制进行文献回顾和分析。46,XX male syndrome is a rare disorder of sexual differentiation with a frequency of 1 in 20000 in new born.Most of them have normal male phenotype,and is usually diagnosed during infertility investigation.At molecular level,the XX males can be classified as SRY-positive and SRY-negative,according to on the presence or absence of SRY gene.Translocation of SRY gene during their male-paternal meiosis was known as the usual mechanism responsible for SRY-positive 46,XX males.The mechanism of development in most of the SRY-negative 46,XX males remains unexplained.Here,literature review and analysis are carried out on the molecular typing and the potentially genetic mechanism of the 46,XX male.

关 键 词：性分化 46 XX男性 SRY阳性 SRY阴性 

分 类 号：R737.9[医药卫生—肿瘤]