家族性原发性皮肤淀粉样变遗传学分析

The Genetic Study of Family Primary Cutaneous Amyloidisis

目的探讨家族性原发性皮肤淀粉样变(FPCA)与染色体1q21.3-24.2和5p13.1-q11.2的连锁关系。方法在染色体1q21.3-24.2和5p13.1-q11.2处选取16个微卫星标记位点,用Linkage软件计算各位点连锁概率。结果所有位点连锁分析所得的LOD值均<-2,排除了连锁关系。结论该家系的易感基因不在染色体1q21.3-24.2和5p13.1-q11.2区域,FPCA存在遗传异质性。

Objective To study the linkage between familial primary cutaneous amyloidosis （FPCA） and chromosome1q21.3-24.2 and 5p13.1-q11.2. Methods Sixteen microsatellite markers were used to scan the regions on chromosomes 1q21.3-24.2 and 5p13.1-q11.2. LOD scores were calculated by using linkage software. Results The LOD scores of all markers were negative, no linkage was found between the two chromosome regions and FPCA. Conclusion The susceptible gene of this FPCA family was not in the locus of chromosome 1q21.3-24.2 or chromosome 5p13.1-q11.2, and there were genetic heterogeneity among FPCA.