Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina

被引：7

作者：

Iglesias, DM

Martin, RS

Fraga, A

Virginillo, M

Kornblihtt, AR

Arrizurieta, E

Viribay, M

SanMillan, JL

Herrera, M

Bernath, V

机构：

[1] UNIV BUENOS AIRES,INST INVEST MED ALFREDO LANARI,RA-1427 BUENOS AIRES,DF,ARGENTINA

[2] BIOL MOL DIAGNOST SA,BUENOS AIRES,DF,ARGENTINA

[3] UNIV BUENOS AIRES,INGEBI,FAC CIENCIAS EXACTAS,RA-1053 BUENOS AIRES,DF,ARGENTINA

[4] HOSP RAMON Y CAJAL,MOL GENET UNIT,E-28034 MADRID,SPAIN

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 10期

关键词：

polycystic kidney disease; genetic heterogeneity; linkage analysis;

D O I：

10.1136/jmg.34.10.827

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Wp to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Here we report the existence of locus heterogeneity for this disease in the Argentinian population by performing linkage analysis on 12 families of Caucasian origin. Eleven families showed linkage to PKD1 and one family showed Linkage to PKD2. Two recombinants in the latter family placed the locus PKD2 proximal to D4S1563, ire agreement with data recently published on the cloning of this gene. Analysis of clinical data suggests a milder ADPKD phenotype for the PKD2 family.

引用

页码：827 / 830

页数：4

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