摘要
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.
出处
《中国麻风皮肤病杂志》
2008年第12期940-942,共3页
China Journal of Leprosy and Skin Diseases