Turner综合征患者染色体核型、DNA复制与表型效应的关系

A Study of the Relationship between Cytogenetics and Phenotypic Effect in Turner′s Syndrome

应用高分辨ＲＢＧ（ＢｒｄＵ－Ｕｌｔｒａｖｉｏｌｅｔ－Ｇｉｅｍｓａ－Ｒ－ｂａｎｄ，ＲＢＧ）技术对５例患Ｔｕｒｎｅｒ综合征的患儿进行临床及细胞遗传学研究，分析了Ｘ染色体复制特征及失活类型。结果表明：５例患者中３例核型为４６，Ｘ，ｉ（Ｘｑ），另２例核型为４６，Ｘ，ｄｅｌ（Ｘ）（Ｐ２１）；结构异常Ｘ染色体均为非随机失活，等臂Ｘ染色体两臂带纹基本对称出现，短臂缺失的Ｘ染色体ＤＮＡ复制顺序改变，Ｐ１１·４、Ｐ１１·２复制频率明显低于正常女性迟复制Ｘ染色体；提示Ｘ染色体结构改变及复制特征与表型效应有关。

The cytogenetics and clinical stigmas in five cases of Turner's syndrome were studied;Three of them were non-mosaic i(Xq),two with partial monosomy of a X chromosome short arm(Xp21),whose DNA replication patterns of inactive X chromosome were analyzed by RBG technique.Results showed that differences between the replication patterns in cases with X chromosome deletion (Xp21)and normal females existed and that the behaviour of abnormal X expressed nonrandom inactivation. This suggested that the phenotype was closely related both with X chromosome replication pattern and its inactivation behaviour,which might be useful for genetic counselling.