2例SRY阳性的46,XX男性综合征患者临床及细胞分子遗传学研究  

Clinical,molecular and cytogenetic studies on 2 patients with 46,XX(SRY Positive)male syndrome

作　　者：郝胜菊[1] 刘芙蓉[1] 刘亚莉[1] 王兴[1] 闫有圣[1] 梁济慈[1] 周秉博 

机构地区：[1]甘肃省妇幼保健院,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2017年第7期43-44,26,F0003,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨SRY阳性的46,XX男性综合征患者的临床及细胞分子遗传学特征。方法分析2例46,XX(SRY+)男性综合征患者的临床特点,通过患者染色体核型分析、多重连接探针扩增(MLPA)、荧光原位杂交(FISH)技术,进行Y染色体微缺失的细胞和分子遗传学检测。结果 2例患者社会性别均为男性,染色体核型均为46,XX,Y染色体微缺失检测示AZF a,b,c区域均缺失,SRY基因均存在。结论 SRY基因是参与性别决定和分化的关键基因,对其进行检测有利于明确性反转综合征的临床诊断,细胞、分子遗传学研究为性发育异常患者的临床确诊和治疗提供了依据。Objective： To analyze the clinical molecular and cytogenetic features of 46,XX （SRYpositive） male syndrome. Methods： The clinical features of 2 patients with46,XX （SRYpositive） male syndrome were analyzed retrospectively. Karyotyping, MLPAFISH, Y-chromosome microdeletion were performed to study their molecular cytogenetic features.Results： The two patients were all sociopsy chologically males Semen analyses showed complete azoospermia. All were karyotyped as46,XX. Molecular analyses revealed the presence of the SRYgene and absence of AZF a, b and c of the Y chromosome. Conclusion： SRY gene play an important role in sex determination and differentiation. Detecting SRY gene will contribute to diagnose of sex reversal syndrome. It will provide scientific basis for dignosis and treatment of patients with sexual abnormality by molecular genetics.

关 键 词：性反转 SRY基因 染色体核型分析 MLPA FISH 

分 类 号：R596.1[医药卫生—内科学]