合肥地区性逆转综合征患者遗传学研究  

Preliminary research on mechanism of sex reversal syndrome

作　　者：赵保静[1] 袁静[1] 方慧琴[1] 李从青[1] 丛林[1] 

机构地区：[1]安徽医科大学第一附属医院妇产科,合肥230022

出　　处：《中国优生与遗传杂志》2012年第10期29-31,F0003,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究在性逆转综合征中进行皮肤细胞检测对于胚层嵌合机制的探讨及诊断的意义。方法对象是2009年7月至2010年2月在安医大一附院产诊中心就诊的性逆转患者(2例46,XX男性、1例不典型46,XY女性),进行了外周血、皮肤细胞(染色体制备、SRY基因检测)。结果两例46,XX男性外周血染色体核型和皮肤细胞核型均一致(一个46,XX男性SRY基因阳性,另一个46,XX男性SRY基因阴性);一例外周血核型为46,XY女性,皮肤细胞核型分析为45X/47XYY,表现为嵌合体。外周血及皮肤细胞SRY基因均为阴性。结论对患者皮肤细胞核型及基因进行检测可以排除嵌合体,并且对于在胚层发育方面的性分化的深入探讨有重要意义。Objective： To study the significance of research on skin cells to explore the mechanism which was named endoderm chimeric and diagnostic of the sex reversal syndrome.Method： Patients diagnosed with sex reversal syndrom who got clinical vitists to the Prenatal Diagnosis Center in the First Affiliated Hospital of Anhui Medical University during Jul.2009 and Feb.2010（2 cases of 46,XX males,and 1 case of 46,XY female）.We have chromosome,SRY gene detection in perpheral blood and skin cells in 3 cases of sex reversal syndrom.Result： In three cases of sex reversal syndrome,the chromosome of the perpheral blood and skin cells are the same.SRY gene was positive in a 46,XX male;SRY gene was negative in the other 46,XX male.A patient was 46,XY female with the peripheral blood karyotype,and the skin chimeric karyotype analysis is 45X/47XYY.The SRY gene was negative in the peripheral blood and skin cells.Conclusion： Abnormal expression and lack of SRY gene may lead to sex reversal syndrome.But in addition to SRY gene,there are other genes involved in its occurrence.Karyotype and genetic testing of skin cells of can rule out chimerism.And it is important inthe germ layers in-depth study of sexual differentiation.

关 键 词：性逆转 皮肤 细胞 嵌合体 

分 类 号：R596.1[医药卫生—内科学]