46，XY真两性畸形基因分析及发病机理初探  

GENE ANALYSIS IN 4 CASES OF 46,XY TRUE HERMAPHRODITISM AND PRELIMINARY STUDY OF ITS MECHANISM

作　　者：陈虹[1] 杜晓娟[1] 黄秉仁 丁秀原[1] 伏瑾[1] 张莉莉[1] 梁廷臣[1] 

机构地区：[1]北京首都儿科研究所,中国医学科学院基础医学研究所

出　　处：《中华医学遗传学杂志》1996年第5期289-291,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：为了解４６，ＸＹ真两性畸形发病机理，采用多聚酶链式反应（ＰＣＲ）及核苷酸序列分析等手段，对４例４６，ＸＹ真两性畸形儿的ＳＲＹ基因及ＤＹＺ１序列进行了分析。４例患儿ＳＲＹ基因功能保守区均未发现基因突变。其中１例患儿ＰＣＲ扩增ＤＹＺ１序列未见特异扩增带，Ｓｏｕｔｈｅｒｎ杂交和细胞遗传学分析提示该患儿可能存在ＤＹＺ１序列的部分或全部缺失。对患儿父亲ＤＹＺ１序列分析的结果同正常男性进行了对照。综合有关报道，分析了ＳＲＹ基因及ＤＹＺ１序列在性别发育中的作用。The SRY gene and DYZ1 sequence in 4 cases of children with 46,XY true hermaphroditism were analyzed using PCR and DNA sequencing.No mutation in the conserved domain of SRY gene was detected. In 1 out of 4 cases, however, the 154 bp DYZ1 band was absent by PCR. Southern hybidization and cytogenetic analysis showed that the DYZ 1 sequence of this patient had been deleted in whole or in part, The patient's father showed the same positive results for DYZ 1 as that of a normal male control. Reviewing available published papers, the role of SRY gene and DYZ 1 sequence in sexual development were discussed.

关 键 词：两性畸形 XY真两性畸形 病理学 儿童 

分 类 号：R711.1[医药卫生—妇产科学]