福建省两个汉族瘢痕疙瘩家系与染色体18q21.1的连锁分析  

Linkage analyses for two Han people keloid pedigrees from Fujian Province to chromosome 18q21.1

作　　者：陈阳[1] 宋良萍 

机构地区：[1]福建医科大学附属口腔医院整形外科福州市皮肤病防治院整形外科,福建福州350002 [2]福建检验检疫局国际旅行卫生保健中心,福建福州350001

出　　处：《中国美容医学》2009年第11期1621-1624,共4页Chinese Journal of Aesthetic Medicine

基　　金：福建省科技厅青年人才项目基金资助(编号:2006F3052)

摘　　要：目的:探讨福建省两个汉族瘢痕疙瘩家系是否与18q21.1存在连锁关系。方法:收集来自福建省不同地区的两个汉族瘢痕疙瘩家系,分别命名为A和B家系,从中选出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。设定与瘢痕疙瘩形成关系密切的SMAD2、SMAD4、SMAD7及PIAS2基因为导致家系发病的候选基因,选取这些基因所在的染色体18q21.1区域内与其紧邻的微卫星标记D18S1312、D18S1327、D18S547、D18S1291;对这些微卫星位点进行PCR扩增,产物片断基因分型和连锁分析。结果:A家系微卫星标记D18S1291 LODZ MAX为0.89,D18S1312 LODZ MAX为0.82,D18S547 LODZ MAX为0.75,可以排除连锁;在θ=0.0～0.10时,D18S1327标记的所有LOD值都小于-2,排除连锁。B家系微卫星标记D18S1291 LODZMAX为0.84,D18S1312 LODZ MAX为0.78,D18S547 LODZ MAX为0.63,可以排除连锁;在θ=0.0～0.10时,D18S1327标记的所有LOD值都小于-2,排除连锁。结论:本研究提示这两个来自福建的汉族瘢痕疙瘩家系的易感基因位点不在染色体18q21.1区域。Objective To investigate whether two Han people keloid pedigrees from Fujian Province are linked to chromosome 18q21.1. Methods Peripheral venous blood samples from 26 members having more inherited significance in two Hart people keloid pedigrees from Fuiian Province were collected for extracting genamic DNA. SMAD2, SMAD4, SMAD7 and PIAS2 genes relating with keloid formation closely were assumed as one of the candidate genes for these pedigrees. Four markers, D18S1312, D18S1327, D18S547 and D18S1291 next to these genes in chromosomes 18q21.1 were selected as microsatellite markers. Subsequently, these markers were amplified by PCR, and all PCR products were genotyped and the linkage analyses were performed. Results In A keloid pedigree, D18S1291LODzmx was 0.89, D18S1312LODzmx was 0.82 and D18S547 LODzmxwas 0.75, which could exclude the linkages, while all LODs for D18S1327 were less than -2, at e=0.0-0.10, which excluded the linkage. In B keloid pedigree, D18S1291LODzmx was 0.84, D18S1312LODzmx was 0.78 and D18S547LODzmx was 0.63, which could exclude the linkages, while all LODs for D18S1327 were less than -2, at e=0.0-0.10, which excluded the linkage. Conclusion This study suggests that the susceptibility loci for these two Han people keloid pedigrees from Fujian Province were not on chromosome 18q21.1.

关 键 词：瘢痕疙瘩家系 连锁分析 候选基因 微卫星标记 易感基因位点 

分 类 号：R596.2[医药卫生—内科学]