家族性局灶节段性肾小球硬化的基因研究  

Genetic study of Familial focal segmental glomerulosclerosis(FFSGS)

作　　者：李国民[1] 卢思广[2] 顾兆坤[1] 王凤英[2] 吕进泉[1] 吴丽华[1] 

机构地区：[1]江苏大学附属医院儿科,江苏镇江212001 [2]徐州医学院附属医院儿科,江苏徐州221001

出　　处：《江苏大学学报（医学版）》2007年第5期411-414,418,共5页Journal of Jiangsu University：Medicine Edition

摘　　要：目的:探讨家族性局灶节段性肾小球硬化(familial focal segmental glomerulosclerosis,FFSGS)基因与染色体1q25-31区域的连锁关系。方法:1个中国皖北地区3代FFSGS家系,采集本家系中27名成员的外周血样,选择位于1q25-31上的10微卫星标志:D19S49、D1S452、D1S242、D1S416、D1S240、D1S254、D1S202、D1S222、D1S238和D1S413,应用聚合酶链式反应(PCR)得到扩增产物片断,采用ABI PRISMTM310 Genetic Analyze测定PCR产物片断大小。利用Genescan软件(3.1版)、Genetyper(3.7版)处理后得到检测片断大小,根据相应微卫星标记的产物片断大小不同,得到每个样本的基因型。对基因型数据进行校对后,用连锁分析软件LINKAGE的MLINK程序计算每个标记的两点间LOD(log odds)值。根据两点LOD值判断连锁关系。结果:连锁分析结果显示所有微卫星标记两点间LOD值在不同重组率时均小于0,所有LOD值在重组率为0.0时均小于-2,说明该FFSGS家系疾病基因与1q25-31区域没有连锁关系。结论:该家族疾病基因与已报道的FFSGS定位区域(1q25-31区域)没有连锁关系。Objective： To investigate the linkage relationship between the gene of familial focal segmental glomerulosclerosis （FFSGS） and it autosomal recessive chromosome in a family. Methods： A three-generation Chinese family was investigated. The total number of members was 27 in this family and given systemic physical examinations. Venous blood samples were taken for genetic analysis. DNA was extracted from peripheral blood using phenol-chloroform method. Ten microsatellite markers spanning the interest regions on chromosome 1q25-31 were elected. These markers included D1S452, D1S242, D1S416, D1S466, D 1S240, D 1S254, D 1 S202, D 1 S222, D 1 S238 and D 1 S413. The DNA from each sample was amplified for the 10 markers. After polymerase chain reaction （ PCR）, PCR products of chromosome 1 with markers were subjected to electrophoresis. Then the length of the PCR products was judged at ABI PRISM^TM 310 Genetic Analyzer. The data of PCR products were analyzed using the software Genescan version 3.1 and Genetyper version 3.7 （Applied Biosystem, CA, USA）. After mendelian checking, the eligible genotyping data were used for linkage analysis. Two-point linkage analysis was performed using the MLINK program version 5.1. Two-piont lod scores calculations were performed. Results： The two-point lod scores were below zero and the maximum lod scores at combination rate （0） = 0.0 were less than - 2 for all the markers. Thus, the linkage result showed no evidence that the disease locus was linked to any of these selected markers. Conclusion： There was no evidence that the Chinese family was linked to 1q25-31

关 键 词：家族性局灶节段性肾小球硬化 常染色体隐性遗传 连锁分析 异质性 

分 类 号：R692[医药卫生—泌尿科学]