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将160厘摩的1号染色体区域排除常染色体显性遗传性多囊肾病II型（ADPKD2）。

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1.

作者信息

Kumar S, Kimberling W J, Gabow P A, Shugart Y Y, Pieke-Dahl S

机构信息

Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131.

出版信息

J Med Genet. 1990 Nov;27(11):697-700. doi: 10.1136/jmg.27.11.697.

DOI:10.1136/jmg.27.11.697
PMID:1980516
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017261/
Abstract

Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.

摘要

常染色体显性多囊肾病是一种遗传性疾病，最近的研究表明存在遗传异质性，部分（但并非全部）家族显示与16号染色体短臂上的标记连锁。一个与16号染色体无连锁关系的大型常染色体显性多囊肾病家族的成员，已对位于1号染色体双臂上的12个标记位点进行了分型。多点分析排除了位于长臂上D1S81（pTHH33）和D1S67（pHHH106）之间以及短臂上Rh和PGM1之间区域存在多囊肾病2型基因座。这将疾病基因座排除在1号染色体约61%的区域之外。

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N Engl J Med. 1981 Aug 20;305(8):434-8. doi: 10.1056/NEJM198108203050805.
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Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.成人多囊肾病临床发病年龄及超声检测年龄：遗传咨询数据
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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.人类多位点连锁分析：连锁检测与重组估计
Am J Hum Genet. 1985 May;37(3):482-98.
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A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.用于基因排除分析的模型系统：囊性纤维化与19号染色体
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Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.两个与16号染色体上成人多囊肾病紧密连锁的遗传标记。
Br Med J (Clin Res Ed). 1986 Mar 29;292(6524):851-3. doi: 10.1136/bmj.292.6524.851.
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A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.一个与16号染色体上成人多囊肾病相关的高度多态性DNA标记。
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