一个中国汉族家族性IgA肾病家系致病基因的排除性定位

目的 对一个中国汉族家族性IgA肾病（FIgAN）家系进行遗传连锁分析，并对目前国内外已知的5个致病位点进行排除性定位，从而初步定位该家系致病基因的染色体位点。 方法 判断FIgAN的遗传方式。采集家系成员外周血提取基因组DNA。在已报道的FIgAN致病区域（2q36、3p23-24、4q26-31、6q22-23、17q12-22）选取微卫星遗传标记（STR），进行基因组扫描，应用两点间连锁分析方法对基因分型数据进行分析。结果 该FIgAN家系的遗传方式为常染色体显性遗传。对该家系5个已知致病区域内计26个STR的两点间连锁分析结果显示，最大优势对数（LOD）值为0.39（D17S1868），不支持与上述5个染色体区域的连锁关系。 结论 该家系致病基因所在染色体区域非目前已报道的5个FIgAN致病位点，提示FIgAN存在新的致病区域，并进一步证明了该病的遗传异质性。

Exclusive gene mapping on a Chinese familial IgA nephropathy family

Objective To initially map the gene responsible for autosomal dominant familial IgA nephropathy of a Chinese family by exclusive the five loci that had been reported with linkage analysis. Methods The genetic pattern of the familial IgA nephropathy was identified and the genomic DNA was extracted from the blood samples collected from the family members. Short tandem repeat (STR) inside the loci that had been reported was selected, such as 2q36, 3p23-24, 4q26-31, 6q22-23, 17q12-22, and the data with two-point linkage analysis were performed. Results Autosomal dominant inheritance pattern was demonstrated in phenotypes of the family and there was no linkage relationship in the above five loci of chromosomes because the maximum two-point LOD score was 0.39 at D17S1868. Conclusion Following exclusion of the loci which had been reported, there are other new pathopoiesis loci of FIgAN and it reveals that FIgAN has the genetic heterogeneity according to initial result at the same time.