3号染色体短臂上19个二核苷酸重复多态性的分离与鉴定

Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p.

作者信息

Jones M H, Yamakawa K, Nakamura Y

机构信息

Department of Biochemistry, Cancer Institute, Tokyo, Japan.

出版信息

Hum Mol Genet. 1992 May;1(2):131-3. doi: 10.1093/hmg/1.2.131.

DOI:10.1093/hmg/1.2.131

PMID:1301149

Abstract

We have screened cosmids on chromosome 3p for (dC-dA)n.(dG-dT)n dinucleotide-repeat sequences. Eighty-nine of 155 cosmids (58%) contained (dC-dA)n.(dG-dT(n repeats as determined by colony hybridization with a (dG-dT)10 oligonucleotide probe; 29 of these were subcloned and the sequences flanking the dinucleotide repeats were determined. Nineteen of the 24 loci examined for polymorphisms by PCR were found to be polymorphic with heterozygosities ranging from 3% to 86%. These dinucleotide repeat polymorphisms will be useful markers for high-resolution mapping of genes that have been localized to 3p, including tumour suppressor genes associated with several types of cancer and genes responsible for various hereditary disorders, such as von Hippel-Lindau disease.

摘要

我们在3号染色体短臂上筛选了黏粒，以寻找（dC-dA）n.（dG-dT）n二核苷酸重复序列。155个黏粒中有89个（58%）含有（dC-dA）n.（dG-dT）n重复序列，这是通过用（dG-dT）10寡核苷酸探针进行菌落杂交确定的；其中29个进行了亚克隆，并确定了二核苷酸重复序列两侧的序列。通过聚合酶链反应（PCR）检测的24个基因座中有19个被发现具有多态性，杂合度范围为3%至86%。这些二核苷酸重复多态性将成为对定位于3号染色体短臂上的基因进行高分辨率定位的有用标记，这些基因包括与几种癌症相关的肿瘤抑制基因以及导致各种遗传性疾病（如冯·希佩尔-林道病）的基因。