A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1

A H Beggs; H A Phillips; H Kozman; J C Mulley; S D Wilton; L M Kunkel; N G Laing

doi:10.1016/0888-7543(92)90054-v

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1

Genomics. 1992 Aug;13(4):1314-5. doi: 10.1016/0888-7543(92)90054-v.

Authors

A H Beggs¹, H A Phillips, H Kozman, J C Mulley, S D Wilton, L M Kunkel, N G Laing

Affiliation

¹ Genetics Division, Children's Hospital, Boston, Massachusetts 02115.

PMID: 1505962
DOI: 10.1016/0888-7543(92)90054-v

Abstract

A CA dinucleotide repeat polymorphism has been identified for the skeletal muscle alpha-actinin gene ACTN2. The observed heterozygosity is 44% (predicted heterozygosity 50%, PIC 0.47). This polymorphic marker has been localized between D1S74 and D1S103 on the multipoint linkage map of chromosome 1 at a position 44.4 cM from the most distal marker D1S68 at 1 qter.

Publication types

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

MeSH terms

Actinin / genetics*
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 1*
DNA
Genetic Linkage*
Heterozygote
Humans
Molecular Sequence Data
Muscles / metabolism*
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid

Substances

Actinin
DNA