幼儿性发育疾病的细胞分子遗传学分析一例  

A Case of sexual development disease in cell and molecular genetics analysis

作　　者：王斌艳[1] 史嘉翊 杨爽[1] 王静[1] 宋洁[1] 

机构地区：[1]牡丹江医学院遗传研究室,黑龙江牡丹江157011

出　　处：《中国优生与遗传杂志》2016年第7期22-23,共2页Chinese Journal of Birth Health & Heredity

基　　金：黑龙江省大学生创新项目(201410229014)

摘　　要：Y染色体和SRY基因是控制调节人胚胎早期发育和睾丸发育一个重要相关因子。本研究对一例性发育异常患者进行细胞遗传学染色体分析和对SRY基因进行分析,发现其细胞染色体为女性核型且无SRY基因;从而为患儿的性别确定及治疗提供依据。Y chromosome and SRY gene is the important factors,which controlled and regulated human early embryonic development and testicular development. Of this study was carried out on the case of disorders of sex development by cytogenetic chromosome and SRY gene test. It was detected that chromosome karyotype is the female and SRY gene is negative,so cytogenetic and molecular genetics lay a foundation for the gender identification and treatment of children.

关 键 词：核型分析 SRY基因 性发育病 

分 类 号：R725.9[医药卫生—儿科]