用于常染色体显性多囊肾病诊断及意大利家族遗传异质性测定的连锁分析。

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.

作者信息

Turco A, Peissel B, Gammaro L, Maschio G, Pignatti P F

机构信息

Institute of Biological Sciences, University of Verona School of Medicine, Strada Le Grazie, Italy.

出版信息

Clin Genet. 1991 Oct;40(4):287-97. doi: 10.1111/j.1399-0004.1991.tb03098.x.

DOI:10.1111/j.1399-0004.1991.tb03098.x

PMID:1684535

Abstract

Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3'HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGG1, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other unaffected.

摘要

对来自六个意大利家族的68个人进行了分型，这些家族中常染色体显性多囊肾病（ADPKD）呈分离状态，检测了与16号染色体上PKD1基因座连锁的DNA多态性。总共使用了10个探针：3'HVR、HMJ1、EKMDA、GGG1、26 - 6、VK5B、218EP6、24.1、CRI090和41.1。ADPKD与3'HVR之间在θ = 0.082时Zmax为4.502，ADPKD与GGG1、26.6和218EP6之间在θ = 0.0时Zmax分别为4.382、1.947和1.576。未发现明显的遗传异质性证据。多点分析与PKD1连锁一致。通过超声检查做出的29例诊断和16例排除经基因型测定得到证实；在两例临床诊断不明确的病例中，DNA分析预测一个个体患病，另一个个体未患病。