原发性皮肤淀粉样变一家系致病基因的连锁分析

Linkage analysis of a Chinese family with primary cutaneous amyoidosis

目的：探讨家族性原发性皮肤淀粉样变（FPCA）致病基因与染色体1q23，5p13．1-q11．2以及10号染色体近着丝粒区的连锁关系。方法：采用10个荧光微卫星标记对-FPCA家系进行连锁分析，在染色体1q23，5p13．1-q11．2以及10号染色体近着丝粒区选择10个荧光微卫星标记。通过Link—age5．1软件包计算连锁概率。结果：各位点连锁分析所得的IDD值均小于-2，显示该家系致病基因与这10个位点均不连锁。结论：FPCA存在遗传异质性，该家系的致病基因可能在其他新的基因位点上。

Objective： To study the linkage between familial primary cutaneous amyloidosis （FPCA） and chromo- some 1q23, chromosome 5p13.1 - q1 1.2 and tile pericentromeric region of chromosome 10. Methods： Ten fluores- cence labeled microsatellite markers were used to scan the critical regions on chromosomes 1q23, chromosomes 5p 13.1 - q11.2 and the pelicentromeric region of chromosome 10 in a Chinese family of FPCA. LOD scores were cal- culated by using Linkage 5.1 software package. Results： In the 10 selected microsatellite markers covering the previously reported regions, the LOD score was 〈 - 2 in all microsatellites, which excluded the previously reported regions found in other ethnic families. Conclusion： The results indicate that FPCA has genetic heterogeneity and the family might be mapped on another new locus.