云南地区先天性髋关节脱位4个家系22号与7号染色体易感基因连锁分析

目的探讨先天性髋关节脱位（CDH）与22、7号染色体之间的连锁关系。方法以4个云南地区CDH家系为研究对象，提取所有家系成员的DNA。选用人类连锁协作中心（CHLC）开发的微卫星多态标记，其中8个平均分布于22号染色体，10个分布于7号染色体。进行PCR扩增，产物进行非变性凝胶电泳，银染色。凝胶分析系统行等位基因分型。应用Linkage软件包在不同的重组率条件下行参数型连锁分析，设疾病基因频率为0．02。结果所有位点表现了较高杂合度和多态性，基因型数据符合孟德尔定律。22、7号染色体两点连锁分析，LOD值〈1，表示不存在连锁关系。提示4个家系CDH与各微卫星位点不存在连锁关系。结论排除云南地区CDH家系致病基因位于22、7号染色体上。

Genetic linkage analysis of susceptible gene of congenital dislocation of the hip with chromosome 7, 22 in four Yunnan pedigrees

Objective To investigate genetic linkage between the phenotype of congenital dislocation of the hip(CDH)and genes located in chromosome 22,7,and attempt initially process of the genome-wide scan for searching disease-susceptibility loci.Methods According to epidemiological data,we studied 4 kindred with CDH in yunna,which include 65 persons in 5 generations.the affected status of 17 individuals had been established on the basis of their clinical and radiological presentation of the disorder.44 blood specime...