摘要
目的：从与瘢痕疙瘩发病可能存在密切关系的基因出发，分析中国汉族瘢痕疙瘩家系致病基因与染色体2q23区域是否存在连锁关系，以定位易感基因位点。方法：采用微卫星扫描及连锁分析方法，选取3个中国汉族瘢痕疙瘩家系中69名成员的外周静脉血标本，根据文献选择位于2q23区域11个微卫星标记，应用多重聚合酶链式反应（mPCR）扩增产物片断，测定PCR产物片段，获得每个样本的基因分型。运用连锁分析软件LINKAGE的MLINK程序计算每个标记位点的LOD值，根据两点间LOD值判断是否存在连锁关系。结果：在重组率θ=0～0．5时，这些微卫星标记的两点LOD值绝大部分都小于1，排除连锁关系存在。结论：中国汉族瘢痕疙瘩家系易感基因位点不在染色体2q23区域。说明瘢痕疙瘩易感基因位点存在异质性。
AIM： For the relationship of keloid onset and relevant gene, the present study analyzed the linkage between virulence gene of Chinese keloid pedigrees and chromosome 2q23 to locate the site of predisposing genes. METHODS： Peripheral venous blood samples of 69 members in the three keloid pedigrees were collected by microsatellite scanning and linkage analysis. Eleven markers on chromosome 2q23 were selected as microsatellite markers according to literatures. Subsequently, these markers were amplified by multiplex polymerase chain reaction （mPCR）, and all PCR products were genotyped. LOD scores at each marker site were calculated by MLINK program of LINKAGE software of the linkage analyses to judge their linkage relationship. RESULTS： Among the 11 selected markers, the two point LOD scores were less than 1 at θ = 0-0.5, they were excluded the linkage to the disease locus. CONCLUSION： Keloid susceptibitity loci in the Chinese keloid pedigrees were not on chromosome 2q23, demonstrating locus heterogeneity in familial keloid formation.
出处
《中国组织工程研究与临床康复》
CAS
CSCD
北大核心
2008年第33期6484-6487,共4页
Journal of Clinical Rehabilitative Tissue Engineering Research
基金
广东省名医工程(2004199)~~
