常染色体显性多囊肾病基因座的区域定位。

Regional localization of the autosomal dominant polycystic kidney disease locus.

作者信息

Reeders S T, Keith T, Green P, Germino G G, Barton N J, Lehmann O J, Brown V A, Phipps P, Morgan J, Bear J C

机构信息

Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

出版信息

Genomics. 1988 Aug;3(2):150-5. doi: 10.1016/0888-7543(88)90146-2.

DOI:10.1016/0888-7543(88)90146-2

PMID:2906325

Abstract

The localization of the autosomal dominant polycystic kidney disease locus (PKD1) within an array of anonymous polymorphic DNA sequences on chromosome 16 band p13 was determined by multipoint mapping. Nine polymorphic DNA markers, including two hypervariable sequences, were used to study 19 PKD1 and 21 reference families. PKD1 was found to lie proximal to the 3' and 5' hypervariable regions of alpha-globin and distal to the anonymous sequence CRI-0327. Somatic cell hybrid mapping places PKD1 within the region 16p13.11-16pter. The availability of an array of linked markers which bracket the PKD1 locus provides a framework for further attempts to identify the PKD1 gene and offers an improved method of presymptomatic diagnosis of the disease.

摘要

通过多点定位确定了常染色体显性多囊肾病基因座（PKD1）在16号染色体p13带一系列匿名多态性DNA序列中的定位。使用包括两个高变序列在内的9个多态性DNA标记，对19个PKD1家族和21个参照家族进行研究。发现PKD1位于α-珠蛋白3'和5'高变区的近端以及匿名序列CRI-0327的远端。体细胞杂交定位将PKD1定位于16p13.11 - 16pter区域。一系列包围PKD1基因座的连锁标记的可获得性为进一步鉴定PKD1基因提供了一个框架，并为该疾病的症状前诊断提供了一种改进方法。