Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy

K J Johnson; P J Jones; N Spurr; E Nimmo; J Davies; H Creed; M Weiss; R Williamson

doi:10.1159/000132577

Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy

Cytogenet Cell Genet. 1988;48(1):13-5. doi: 10.1159/000132577.

Authors

K J Johnson¹, P J Jones, N Spurr, E Nimmo, J Davies, H Creed, M Weiss, R Williamson

Affiliation

¹ Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, UK.

PMID: 2460293
DOI: 10.1159/000132577

Abstract

Using a cDNA probe for the gamma gene of protein kinase C (PKCG), an informative RFLP with a PIC value of 0.62 has been identified with the enzyme MspI. The polymorphic bands have been assigned to chromosome 19. Analysis of the segregation of alleles for this probe in myotonic dystrophy families show several recombinants between PKCG and myotonic dystrophy (DM) and exclude this gene as a candidate for DM. Linkage relationships between PKCG and other loci on chromosome 19 are presented which exclude PKCG from the proximal region of chromosome 19 and which are consistent with the localization being at 19q13.2----qter.

Publication types

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

MeSH terms

Alleles
Blotting, Southern
Chromosome Mapping
Chromosomes, Human, Pair 19*
DNA / genetics
DNA Probes
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific
Genetic Linkage*
Genetic Markers
Humans
Hybrid Cells
Myotonic Dystrophy / genetics*
Nucleic Acid Hybridization
Pedigree
Polymorphism, Restriction Fragment Length
Protein Kinase C / genetics*

Substances

DNA Probes
Genetic Markers
DNA
Protein Kinase C
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific