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本文采用RBG技术,对6例X三体女性失活X染色体的复制带型及其差异进行研究。发现X三体患者的不同表型与其失活X染色体复制带型的差异存在一定的联系。表型正常的与表型异常的X三体女性相比,前者的两条失活X染色体非同步复制的带较少,没有Xq21带提前复制的现象。而后者非同步复制沟带较多,有Xq21带提前复制的现象。这种联系在X三体的遗传咨询和产前诊断中具有一定的指导意义。
In this paper, RBG technology, 6 cases of X trisomy female X chromosome inactivation of replication patterns and their differences were studied. It is found that the different phenotypes of X trisomy patients have some connection with the differences of X banding patterns in inactivation. Compared with X trisomy women whose phenotype was normal and phenotypic abnormality, the two inactive X chromosomes of asynchronous replication of the former had fewer bands, and there was no phenomenon of Xq21 with early replication. The latter non-synchronous replication groove more Xq21 with a copy of the phenomenon. This relationship in the X trisomy genetic counseling and prenatal diagnosis has a certain significance.