A novel NcoI polymorphism creates a fifth haplotype in the 3' untranslated region of CKM

A M Differ; M Bobrow; C G Mathew

doi:10.1007/BF00221966

A novel NcoI polymorphism creates a fifth haplotype in the 3' untranslated region of CKM

Hum Genet. 1992 Aug;89(6):689. doi: 10.1007/BF00221966.

Authors

A M Differ¹, M Bobrow, C G Mathew

Affiliation

¹ Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, UK.

PMID: 1355071
DOI: 10.1007/BF00221966

Abstract

A novel NcoI polymorphism has been detected in the 3' untranslated region of the creatinine kinase (CKM) gene. The addition NcoI restriction site creates a fifth haplotype for the NcoI and TaqI restriction fragments length polymorphisms at this locus, and segregates with the myotonic dystrophy gene in 3 generations of an affected family.

Publication types

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

MeSH terms

Creatine Kinase / genetics*
Deoxyribonucleases, Type II Site-Specific
Female
Haplotypes / genetics*
Humans
Male
Myotonic Dystrophy / genetics*
Pedigree
Polymorphism, Restriction Fragment Length
Protein Biosynthesis

Substances

Creatine Kinase
endodeoxyribonuclease NcoI
Deoxyribonucleases, Type II Site-Specific