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

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

doi:10.1007/BF00291421

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

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

Authors

H Scheffer¹, I P Kema, I Kondo, A Y van der Veen, T Ikeuchi, C H Buys

Affiliation

¹ Department of Human Genetics, State University of Groningen, The Netherlands.

PMID: 2891602
DOI: 10.1007/BF00291421

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Chromosome Banding
Chromosome Mapping*
Chromosomes, Human, Pair 13*
DNA / genetics
Hepatolenticular Degeneration / diagnosis
Hepatolenticular Degeneration / genetics*
Humans
Karyotyping
Nucleic Acid Hybridization
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length*
Retinoblastoma / diagnosis
Retinoblastoma / genetics*

Substances

DNA