异质性成人型多囊肾基因定位研究  

STUDY ON GENE LOCATION IN A FAMILY OF HETEROGENEOUS ADULT POLYCYSTIC KIDNET DISEASE

作　　者：宁志芬[1] 刘国印 

机构地区：[1]承德医学院生物教研室 [2]中国医学科学院基础医学研究所

出　　处：《承德医学院学报》1999年第2期95-98,共4页Journal of Chengde Medical University

摘　　要：目的：对国内首次发现的异质性成人型多囊肾家系进行基因定位的研究。方法：采用家系分析、核型分析、聚合酶链———限制性片段长度多态Ｒ、连锁分析和ＬｏｄＳｃｏｒｅ值计算等分子生物学及细胞生物学的技术和方法。结果：排除了Ｄ２Ｓ４４、ＡｐｏＢ、Ｄ１０Ｓ２８、Ｄ１７Ｓ２５４位点上不存在异质性ＡＰＫＤ的致病基因。结论：此结果为进一步深入研究此基因提供了有价值的资料。objective:To locate the heterogeneity gene of adult polycystic kidney disease(APKD)discovered first in our country from a family.Methods:molecular biologic and genetic technique and methods were used,such as PCR RFLP,pedigree analysis,karyotype analysis and calculation of Lod Score value.Results:We excluded the linkage between heterogeneity gene and D2S44,ApoB,D10S28,and D17S254(17q22 q24).Conclusion:The result provided valuble information for further study on this research area.

关 键 词：成人型 多囊肾病 异质性 基因定位 

分 类 号：R692.120.2[医药卫生—泌尿科学]