【作者】 王丽君；

【导师】 邓云华；

【作者基本信息】 华中科技大学 ， 皮肤性病学， 2008， 硕士

【摘要】 【目的】探讨原发性皮肤淀粉样变(Primary cutaneous amyloidosis,PCA)致病基因与1q23、5p13.1-q11.2以及10号染色体着丝粒近端10p11.21-q11.21的连锁关系。【方法】采用荧光微卫星标记对收集到的一原发性皮肤淀粉样变家系进行连锁分析。此家系4代共21人,提取17个成员的外周血DNA,在1q23、5p13.1-q11.2和10号染色体着丝粒近端选择10个荧光微卫星标记:1S498、D1S484、D1S2878。D1S196、D5S426、D5S418、D5S407、D10S1669、D10S1791和D10S1746。应用聚合酶链式反应(Polymerase chain reaction ,PCR)得到扩增产物片段,采用ABI3100遗传分析仪测定PCR产物片段大小。根据相应微卫星标记产物片断大小不同,得到每个样本的基因型。对基因型数据进行校对后,用连锁分析软件LINKAGE5.1计算每个标记的LOD值,根据两点间LOD值判断连锁关系。【结果】所选10个标记处的LOD值重组率在0.0时均小于-2,说明该家系与1q23,5p13.1- q11.2和10号染色体着丝粒近端没有紧密的连锁关系。【结论】该家系的致病基因与已报道的原发性皮肤淀粉样变1q23、5p13.1-q11.2以及10号染色体着丝粒近没有连锁关系。说明原发性皮肤淀粉样变可能存在着遗传异质性,该家系的致病基因可能在其它基因位点上。更多还原

【Abstract】 Objective:To study the linkage between Primary Cutaneous Amyloidosis and chromosome 1q23,chromosome 5p13.1-q11.2 and the pericentromeric region of chromasome 10.Methods:A four-generation Chinese family was investigated. The total number was 21 in this family.Venous blood samples were taken for genetic analysis from 17 of the family. DNA was extracted from peripheral blood leukocytes. 10 fluorescence labeled microsatellite markers spanning the critical regions on chromosomes were genotyped. These markers included D1S498、D1S484、D1S2878 and D1S196 for the 1q23 region.D5S426,D5S418 and D5S407 for the 5p13.1- q11.2 region. D10S1669, D10S1791 and D10S1746 for the pericentromeric region of chromasome 10. The DNA from each sample was amplified for the 10 markers. After polymerase chain reactions (PCR), PCR products were scanned at ABI 3100 autosequencer. The data of PCR products were analyzed using the software Genemapper3.5. LOD scores were calculated by using LINKAGE v5.1.Results:Among the 10 selected Microsatellite markers, which cover the previously reported regions. The LOD score was <-2 in all microsatellites in the 3 regions. Therefore, the linkage result showed no evidence that the disease locus is linked to any of these selected markers, which excludes the previously reported regions found in other ethnic families.Conclusions:There is no evidence that this Chinese family was linked to one of the following loci: 1q23,5p13.1-q11.2 and the pericentromeric region of chromasome 10. The results indicated that PCA showed genetic heterogeneity and the family might be mapped on another new locus.更多还原