Dai H, Deng H, He X, Li L, Xia J
State Key Laboratory of Medical Genetics of China, Hunan Medical University, Changsha.
Yi Chuan Xue Bao. 1992;19(4):298-303.
In this study, we analysed the parental origin and mechanism of X chromosome abnormalities in 3 cases by using RFLPs on short or long arm of X chromosome as genetic markers. Their karyotypes were 46,X,dup(X)(p21); 46,X,del(X)(p11); 46,X,i(Xq). The results demonstrated that the dup(X)(p21) and the del(X)(p11) were of paternal origin and i(Xq) was of maternal origin. The dup(X)(p21) arose from an unequal sister chromatid exchange. The del(X) (p11) occurred through X chromosome breakage and deletion mechanism. The i(Xq) resulted from X chromosome centromere misdivision in oocyte.
在本研究中，我们以X染色体短臂或长臂上的限制性片段长度多态性（RFLPs）作为遗传标记，分析了3例X染色体异常的亲本来源及机制。其核型分别为46,X,dup(X)(p21)；46,X,del(X)(p11)；46,X,i(Xq)。结果表明，dup(X)(p21)和del(X)(p11)来自父方，而i(Xq)来自母方。dup(X)(p21)源于不等姐妹染色单体交换。del(X)(p11)是通过X染色体断裂和缺失机制形成的。i(Xq)是由于卵母细胞中X染色体着丝粒错分所致。
