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目的 :探讨性发育异常与染色体和SRY基因的关系及其意义。方法 :采用外周血淋巴细胞G显带和PCR方法 ,对 10 8例性发育异常患者行染色体型分析和SRY基因检测。结果 :10 8例性发育异常患儿中 5例患儿有性染色体畸变 ,畸变率为 4 .6 3% ,13例患儿染色体异态 ;2例染色体核刑为 4 6 ,XY的男性患为SRY基因缺失 ,2例社会性别为女的 4 6 ,XY患儿SRY基因阳性 ,4例社会性别为男的 4 6 ,XX患儿SRY基因阴性。结论 :染色体畸变是引起性发育异常的重要原因之一 ;SRY基因不是性别决定的唯一基因 ,SRY基因的缺失或突变可能导致性发育的一系列异常改变 ;对性发育异常患儿实施染色体和SRY基因的检测具有十分重要的临床意义。
Objective: To investigate the relationship between chromosomal abnormalities and SRY genes and their significance. Methods: Chromosome analysis and SRY gene detection were performed in 108 patients with dysplasia by G banding and PCR of peripheral blood lymphocytes. Results: Among 108 children with dysplasia, 5 cases had sex chromosome aberration, the rate of distortion was 4.63%, 13 cases had chromosomal abnormalities; 2 cases had nuclear chromosomes of 46, XY male patients For SRY gene deletion, 2 cases of gender-female 46, XY children with SRY gene positive, 4 cases of male sex 46, XX SRY gene-negative children. Conclusion: Chromosomal aberration is one of the important causes of sexual dysplasia. SRY gene is not the only sex-determining gene. The deletion or mutation of SRY gene may lead to a series of abnormal changes in sex development. Chromosome and SRY The detection of genes has very important clinical significance.