福建省两个汉族瘢痕疙瘩家系易感基因位点与染色体7p11的连锁分析

目的：探讨福建省两个汉族瘢痕疙瘩家系易感基因位点是否与7p11存在连锁关系。方法：从来自福建省2个汉族瘢痕疙瘩家系中选出26名具有较高遗传学研究意义的成员作为研究对象，采集他们的外周静脉血样，提取基因组DNA，参照国外最近相似研究的方法，在染色体7p11上选取已知的4个最大两点LOD值的微卫星为遗传标记，经PCR扩增，产物基因分型，再进行连锁分析。结果：在重组率Θ=0～0．1时，这些微卫星标记的两点LOD值都小于-2，排除这些标记与染色体7p11的连锁关系。结论：本研究发现福建省两个汉族瘢痕疙瘩家系的易感基因位点不在染色体7p11上的遗传学证据，说明瘢痕疙瘩易感基因位点存在异质性。

Linkage analysis for susceptibility loci of keloid in two Han people pedigrees from Fujian Province to chromosome 7p11

Objective To investigate whether the susceptibility loci of keloid in two Han people pedigrees from Fujian Province is linked to chromosome 7p11. Methods Peripheral venous blood samples from 26 members having more inherited significance in two Han people pedigrees from Fujian Province were collected for extracting genomic DNA. 4 microsatellits on chromosome 7pll with the known maximal two-point LOD scores were selected as inherited markers referring to recent foreign literatures on the similar study. Subsequently, these markers were amplified by PCR, and all PCR products were genotyped and the linkage analyses were performed. Results The two-point LOD scores for these markers were all less than -2 at Θ=0 -0.1, which excluded the linkages of these markers to chromosome 7p11. Conclusions This study provides the genetic evidence that keloid susceptibility loci in two Han people pedigrees from Fujian Province was not on chromosome 7p11, demonstrating susceptibility loci heterogeneity in familial keloid formation.