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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 investigate the chromosomal location of a causative gene in a primary gout family. Methods The clinical data and blood samples of gout family members were collected. One of the typical pedigrees was selected as the research object (including 6 patients and 9 normal individuals). Genomic DNA of peripheral blood was extracted and genome-wide scan and linkage analysis were performed to identify the chromosomal region where the pathogenic gene is located. Results The maximum LOD value (LOD = 1.50 at θ = 0.00) was obtained at the microsatellite primer D4S1572, indicating that the causative gene of this gout family is linked to this site. Conclusions Since D4S1572 is located at 4q25, the pedigree-specific gene is located near 4q25.