【摘要】 目的探讨中国人群瘢痕疙瘩家系是否与2q23和7p11存在连锁关系。方法选择两个中国人群瘢痕疙瘩大家系,从中共选出51名成员,采集其外周静脉血样,提取基因组DNA;参照国外最近相似研究的文献报道,在染色体2q23和7p11上,分别选取6个和4个微卫星标记,经多重PCR扩增,产物片断基因分型,再进行连锁分析。结果在重组率θ=0时,这些微卫星标记的两点LOD值绝大部分都小于-2,排除连锁关系存在。结论本研究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2q23和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。更多还原

【Abstract】 Objective To investigate whether Chinese keloid pedigrees are linked to chromosome 2q23 and 7p11. Methods Venous blood samples from 51 members in two large keloid pedigrees were collected and extracted genomic DNA. 6 markers on chromosome 2q23 and 4 markers on 7p11 were selected as microsatellite markers according to foreign literature on the similar study recently. Subsequently, these markers were amplified by PCR, and all PCR products were genotyped and the linkage analyses were performed. Results Most of the two-point LOD scores for these markers at θ=0 were less than-2, which excluded the linkage. Conclusion This study provides the first genetic evidence that keloid susceptibility loci in Chinese pedigree were not on chromosome 2q23 and 7p11, demonstrating locus heterogeneity in familial keloid formation.更多还原