title: Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus.
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.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Mastuura
authors.forename: F
authors.initials: F
authors.lastname: Kishi
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D018821:CD18 Antigens; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D017931:DNA Primers; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016028:Receptors, Leukocyte-Adhesion / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D018821:CD18 Antigens; D017931:DNA Primers; D016028:Receptors, Leukocyte-Adhesion