闭经患者的分子遗传学分析

The study of molecular genetics in the patients with amenorrhea

目的探讨闭经患者与细胞染色体异常及其相关的SRY基因的关系。方法选择在我院就诊的闭经患者197例,其中原发性闭经141例、继发性闭经56例,对每例患者进行淋巴细胞染色体检查与妇科检查,对含有Y染色体的患者或先天性无子宫、无阴道的患者进行SRY检测;选16例SRY(+)的患者进行SRY基因序列分析。结果原发性闭经组,性染色体数目和/或结构异常患者39例,常染色体异常1例,SRY(+)12例,其中2例患者SRY基因分析有突变;继发性闭经组,性染色体数目和/或结构异常患者10例,常染色体异常1例,SRY(+)2例,1例SRY基因分析提示有突变。结论结合临床体征和染色体检查、SRY监测,不仅为闭经患者寻找病因提供理论依据,而且有利于指导治疗。

Objective:In order to investigate the reason of amenorrhea .Methods: 197 patients were investigatein our stndies.Besides throughly physical examinations,the karyotype analysis technique of the cytogenetics combined with polymerase chain reation(PCR) were used to detect the SRY gene,DNA squencing techniques were used to analyse the SRY gene.Results:Among the 141 patients with primary amenorrhea,39 cases were found to have a abnormal sex chromosome and 12 cases had SRY gene. There were 10 patients with abnormal sex chromosome number or structure in 56 cases with secondary amenorrhea .One patient who had secondary amenorrhea showed a positive SRY . Conclusion :Through analysising the chromosome,clinical examination and SRY gene,we will not only give some cytogenitie witness for the reason, but also have direactive meaning for the treatment.