title: Investigation of killer cell immunoglobulin-like receptor gene diversity, KIR2DL1 and KIR2DS1.
abstract: Polymorphism in the alleles of the killer cell immunoglobulin-like receptor 2DL1 and 2DS1 genes has been investigated by the development of polymerase chain reaction-sequence-specific oligonucleotide probing systems. The methods have been applied to 77 Northern Irish families, establishing allele frequencies from the unrelated parents. Additionally, cell line DNA from individuals and CEPH families of the 13th International Histocompatibility Workshop panel were investigated. Eight of the reported KIR2DL1 alleles and only the KIR2DS1*002 allele were identified in the groups studied. Two individuals were positive for three alleles of KIR2DL1, and a putative variant of KIR2DL1*001 was observed. Results also indicated an inherited KIR2DL1/2DS1 splice variant present in a haplotype with several core loci absent, in two families.
authors.affiliation: Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, UK.
authors.forename: A
authors.initials: A
authors.lastname: Meenagh
authors.forename: A
authors.initials: A
authors.lastname: Gonzalez
authors.forename: C
authors.initials: C
authors.lastname: Sleator
authors.forename: S
authors.initials: S
authors.lastname: McQuaid
authors.forename: D
authors.initials: D
authors.lastname: Middleton
mesh_terms: D000483:Alleles; D002460:Cell Line; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D007494:Ireland; D011110:Polymorphism, Genetic; D054340:Receptors, KIR / Q000235:genetics*; D054342:Receptors, KIR2DL1 / Q000235:genetics*
chemical_list: C093100:KIR2DL1 protein, human; C496212:KIR2DS1 protein, human; D054340:Receptors, KIR; D054342:Receptors, KIR2DL1