title: Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia.
abstract: A survey of KIR2DL4 polymorphism revealed seven common sequences in the Australian population. The seven sequences encode three different amino acid sequences of the immunoglobulin domains. Two of the sequences encoding different amino acid sequences in the immunoglobulin domains also occur on some chromosomes with a single nucleotide deletion at the end of exon 6, which encodes the transmembrane domain (DeltaTM mutation), resulting in exon 6 skipping during mRNA production. Due to alternate splicing, a fraction of the mRNA produced by these alleles includes the transmembrane region but is missing the cytoplasmic region. The remaining two sequences differed only by synonymous substitutions. All of the exonic polymorphisms of KIR2DL4 could be detected by single-stranded conformational polymorphism of individually amplified exons. The DeltaTM mutation is in linkage disequilibrium with the killer cell immunoglobulin-like receptor (KIR) A haplotype, and the wild-type sequence is in linkage disequilibrium with the B haplotype. The frequencies of alleles with the DeltaTM mutation or Ig-domain polymorphisms did not differ between women who experienced pre-eclampsia and normotensive controls. Similarly there was no difference in the KIR gene repertoire in pre-eclampsia and normotensive controls.
authors.affiliation: Department of Clinical Immunology and Biochemical Genetics, Royal Perth Hospital, Perth, Western Australia, Australia. campbell.witt@health.wa.gov.au
authors.forename: Campbell S
authors.initials: CS
authors.lastname: Witt
authors.forename: Joanna M
authors.initials: JM
authors.lastname: Whiteway
authors.forename: Hilary S
authors.initials: HS
authors.lastname: Warren
authors.forename: Anne
authors.initials: A
authors.lastname: Barden
authors.forename: Marina
authors.initials: M
authors.lastname: Rogers
authors.forename: Annalise
authors.initials: A
authors.lastname: Martin
authors.forename: Lawrie
authors.initials: L
authors.lastname: Beilin
authors.forename: Frank T
authors.initials: FT
authors.lastname: Christiansen
mesh_terms: D000483:Alleles; D001315:Australia; D002460:Cell Line; D005091:Exons; D005260:Female; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D011971:Receptors, Immunologic / Q000235:genetics*; D054340:Receptors, KIR; D054345:Receptors, KIR2DL4
chemical_list: C515079:KIR2DL4 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D054345:Receptors, KIR2DL4