一个中国汉族家族性IgA肾病家系致病基因的排除性定位  

Exclusive gene mapping on a Chinese familial IgA nephropathy family

作　　者：石书梅[1] 高凌寒[3] 赵学智[1] 张爱平[2] 丁尧海[2] 王艳霞[2] 冯国鄞[2] 贺林[2] 

机构地区：[1]第二军医大学附属长征医院肾内科全军肾脏病研究所,上海200003 [2]济南军区总医院肾内科 [3]上海交通大学Bio—X中心

出　　处：《中华肾脏病杂志》2011年第2期77-81,共5页Chinese Journal of Nephrology

摘　　要：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。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 genomie 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.

关 键 词：肾小球肾炎 IGA 染色体图 连锁(遗传学) 家族性IGA肾病 

分 类 号：R692.3[医药卫生—泌尿科学]