六例Swyer综合征患者临床特点及分子遗传学研究  

Clinical characteristics and molecular genetics of six patients with Swyer syndrome

作　　者：刘彦玲[1] 张曼娜[1] 孙首悦[1] 王伟[2] 贾慧英[1] 朱巍[1] 王卫庆[1] 宁光[1] 李小英[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病研究所,上海市200025 [2]上海交通大学医学院附属瑞金医院儿内科,上海200025

出　　处：《中华内分泌代谢杂志》2013年第5期395-399,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金青年基金（81000319）;上海市科委重大项目（09DJ1400402）

摘　　要：目的 分析6例Swyer综合征患者的临床资料，从分子遗传学水平探讨其病因及发病机制。方法 详细收集6例Swyer综合征患者临床资料，并提取其外周血白细胞基因组DNA，应用PCR技术扩增Y染色体性别决定区（SRY）基因或SRY基因片段。PCR产物纯化后直接测序。结果 6例患者染色体核型均为46,XY，但表现为原发性闭经，女性幼稚外阴，幼稚或始基子宫，无睾丸及前列腺组织，其中3例可探及卵巢或条索状性腺组织。SRY基因测序结果显示3例患者存在SRY基因突变，分别为第62位精氨酸变为甘氨酸（p.R62G），第76位氨精氨酸变为亮氨酸（p.R76L）、第151位终止密码子提前出现（p.S151）；1例患者SRY基因大片段缺失；2例患者SRY基因正常。结论 Swyer综合征患者应首先进行SRY基因筛查，SRY基因突变或缺失是Swyer综合征的常见病因。Objective To analyze the clinical data of six patients with Swyer syndrome and to explore the genetic defects in this disease. MethodsThe clinical features and laboratory data of six patients were collected.The exon or fragments of sex-determining region of Y-chromosome （SRY）gene were amplified by PCR. ResultsAll six patients had 46, XY karyotype, presenting with primary amenorrhea, female infant vulva, tiny uterus without testis or prostate. Ovarian or streak gonads were detected in three of them. Sequencing analysis showed that the missense mutations, p.R62G, p.R76L, and p.S151 were identified in three patients respectively, and there were a large fragment deletion in one patient and no mutation or deletion in two patients. The mutations of p.R76L and p.S151, and the large fragment deletion of SRY gene were not previously reported. ConclusionSRY mutation and deletion are the main causes of Swyer syndrome. The patients with Swyer syndrome should be screened for SRY gene mutations by priority.

关 键 词：Swyer综合征 SRY基因 突变 缺失 

分 类 号：R[医药卫生]