常染色体显性多囊肾病：意大利的异质性连锁评估。意大利多囊肾病协作组

Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.

作者信息

Mandich P, Restagno G, Novelli G, Bellone E, Potenza L, Varetto O, Dallapiccola B, Carbonara A, Ajmar F

机构信息

Department of Biology and Genetics, ISMI, University of Genoa, Italy.

出版信息

Am J Med Genet. 1990 Apr;35(4):579-81. doi: 10.1002/ajmg.1320350426.

DOI:10.1002/ajmg.1320350426

PMID:2333889

Abstract

A survey of 29 families with Adult Polycystic Kidney Disease (ADPKD) was performed to evaluate the genetic heterogeneity of the disease in Italy. The approach was through the linkage between the disease and 2 polymorphic DNA fragments as detected by the probes 3'HVR and 24.1. Linkage between the polymorphic markers and the disease was confirmed, with the following lod scores: between 3'HVR and ADPKD1 = 12.974 at theta = 0.02; between 24.1 and ADPKD = 1.716 at theta = 0.07; between 3'HVR and 24.1 = 2.738 at theta = 0.09. No evidence of significant genetic heterogeneity in the examined Italian regions was detected.

摘要

为评估意大利成人多囊肾病（ADPKD）的遗传异质性，对29个患有成人多囊肾病的家庭进行了一项调查。研究方法是通过检测探针3'HVR和24.1所发现的该疾病与两个多态性DNA片段之间的连锁关系。多态性标记与该疾病之间的连锁关系得到了证实，对数优势分数如下：在θ = 0.02时，3'HVR与ADPKD1之间为12.974；在θ = 0.07时，24.1与ADPKD之间为1.716；在θ = 0.09时，3'HVR与24.1之间为2.738。在所研究的意大利地区未检测到显著遗传异质性的证据。