用于遗传性视网膜母细胞瘤和威尔逊氏病诊断的多态性13q14 DNA探针在子带水平的定位

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.

作者信息

Scheffer H, Kema I P, Kondo I, van der Veen A Y, Ikeuchi T, Buys C H

机构信息

Department of Human Genetics, State University of Groningen, The Netherlands.

出版信息

Hum Genet. 1987 Dec;77(4):335-7. doi: 10.1007/BF00291421.

DOI:10.1007/BF00291421

PMID:2891602

Abstract

Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency Dra I RFLP, have been isolated and cloned from a human chromosome 13-specific phage library and localized at 13q14. Their subband localization was described using a panel of cell lines from patients with different chromosome 13 deletions. A quantitative analysis of hybridization signals was carried out, taking for reference a single-copy DNA sequence from another chromosome. D13S21 and D13S22 were both assigned to q14.1-14.2, which also harbors the genes responsible for retinoblastoma and Wilson disease. The Dra I polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease.

摘要

从一个人类13号染色体特异性噬菌体文库中分离并克隆出了两个单拷贝DNA序列，即检测低频MspI限制性片段长度多态性（RFLP）的pG24E6.8（D13S21）和检测高频Dra I RFLP的pG14E1.9（D13S22），它们定位于13q14。利用一组来自不同13号染色体缺失患者的细胞系描述了它们的亚带定位。以另一条染色体的单拷贝DNA序列为参照，对杂交信号进行了定量分析。D13S21和D13S22均被定位到q14.1 - 14.2，该区域也包含与视网膜母细胞瘤和威尔逊病相关的基因。由pG14E1.9检测到的Dra I多态性对于这两种疾病家族中的连锁研究来说是非常合适的一种。