Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus

S Mastuura; F Kishi

doi:10.1007/BF00201583

Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus

Hum Genet. 1994 Jun;93(6):721. doi: 10.1007/BF00201583.

Authors

S Mastuura¹, F Kishi

Affiliation

¹ Department of Pediatrics, Yamaguchi University School of Medicine, Japan.

PMID: 7911779
DOI: 10.1007/BF00201583

Abstract

The AvaII polymorphic site within the human CD18 gene was investigated in the Japanese population. A distinct distribution pattern is observed in this population. This polymorphism provides a new genetic marker for the long arm of chromosome 21 and should be a useful marker of leukocyte adhesion deficiency caused by mutations of the CD18 gene.

MeSH terms

Antigens, CD / genetics*
Base Sequence
CD18 Antigens
Chromosome Mapping
Chromosomes, Human, Pair 21
DNA Primers
Gene Frequency
Humans
Japan
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic*
Receptors, Leukocyte-Adhesion / genetics*

Substances

Antigens, CD
CD18 Antigens
DNA Primers
Receptors, Leukocyte-Adhesion