南方医科大学学报 ›› 2006, Vol. 26 ›› Issue (05): 623-.

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中国人群瘢痕疙瘩家系易感基因位点与染色体7p11的连锁分析

陈阳; 高建华; 刘晓军; 严欣; 宋玫;   

  1. 南方医科大学南方医院整形外科; 南方医科大学南方医院整形外科 广东广州510515; 广东广州510515;
  • 出版日期:2006-05-20 发布日期:2006-05-20
  • 基金资助:
    广东省名医工程研究项目(2004199)~~

Linkage analysis of keloid susceptibility loci on chromosome 7p11 in a Chinese pedigree

CHEN Yang,GAO Jian-hua,LIU Xiao-jun,YAN Xin,SONG Mei Department of Plastic Surgery,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China   

  1. 南方医科大学南方医院整形外科; 南方医科大学南方医院整形外科 广东广州510515; 广东广州510515;
  • Online:2006-05-20 Published:2006-05-20

摘要: 目的探讨中国人群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1个5代发病的中国人群瘢痕疙瘩大家系中选出32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。结论首次发现了中国人群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。 

Abstract: Objective To investigate whether the keloid susceptibility loci occur on chromosome 7p11 in a Chinese pedigree.Methods Peripheral venous blood samples from 32 members significant for hereditary investigation from a large Chinese keloid pedigree(with 5 affected generations)were collected for extracting genomic DNA.Four microsatellites on chromosome 7p11 with known maximal two-point LOD scores were selected as the genetic markers according to the method described in a recent report of the similar study.These markers were subsequently amplified by PCR,and all the PCR products were genotyped and linkage analyses were conducted.Results With the θ value of 0-0.1,the two-point LOD scores for these markers were all less than-2,which excluded the linkages of these markers to chromosome 7p11.Conclusion This study provides the first genetic evidence that keloid susceptibility loci in Chinese pedigree do not locate on chromosome 7p11,suggesting the heterogeneity of familial keloid susceptibility loci.

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