一个原发性痛风家系致病易感基因染色体定位

Chromosomal localization of primary gout susceptibility gene in a Chinese pedigree

目的对一原发性痛风家系进行致病基因的染色体定位。方法收集痛风家系成员的临床资料及血液样本。选择其中一典型家系为研究对象(包括6例患者,9例正常人),抽提外周血基因组DNA,进行全基因组扫描和连锁分析,初步明确致病基因所在的染色体区段。结果在微卫星引物D4S1572处获得最大LOD值(θ=0.00时LOD=1.50),表明该痛风家系的致病基因与该位点连锁。结论由于D4S1572位于4q25,因此该家系致病基因位于4q25附近。

Objective To determine chromosomal localization of the primary gout susceptibility gene in a pedigree. Methods The clinical data and the peripheral blood samples were collected in the pedigree members and the genomic DNA was extracted from peripheral blood. A genome-wide screening was performed using 400 micro-satellite DNA markers in this family, and linkage analysis was used to determine the chromosomal location of the primary gout susceptibility gone. Results Linkage analysis showed that the maximum LOD score reached 1.50 at marker D4S1572 （at recombination fraction θ =0.00 ）. Conclusion Since D4S1572 is localized at 4q25, the primary gout susceptibility gene of this pedigree is localized at 4q25.