【摘要】 3例嵌合型Turner综合征,除45,X细胞系外,还含有第二个细胞群46,X+mar。PCR分析证实,标记染色体为异常Y染色体,对此异常Y染色体进一步研究表明,存在睾丸决定因子(TDF)基因SRY,而Y长臂末端高度串联重复序列DYZ1发生了缺失。本文还讨论了该病的分子病因和人类性别决定机制。更多还原

【Abstract】 Three turner-syndrome mosaicism patients with 45. X/46. X + mar were studied by polymorase chain reaction. The results showed that the small marker chromosome in each patient was an aberrant Y chromosome, and these aberrant Y chro-mosomes contained testis-determining factor gene, SRY, lost repeated sequence DYZ1 of Y long arm terminal. According to the results, the molecular pathology of three patients and mechanism of human sex-determining were analyzed.更多还原