SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex.

Norman, Paul J.; Cook, Mark A.; Carey, Sean; Carrington, Christine V. F.; Verity, David H.; Hameed, Kamran; Ramdath, Dan D.; Chandanayingyong, Dasnayanee; Leppert, Mark; Stephens, Henry A. F.; Vaughan, R. W.

Norman, Paul J. ; Cook, Mark A. ; Carey, Sean ; Carrington, Christine V. F. ; Verity, David H. ; Hameed, Kamran ; Ramdath, Dan D. ; Chandanayingyong, Dasnayanee ; Leppert, Mark ; Stephens, Henry A. F. ; Vaughan, R. W. .

Afiliación

Norman, Paul J. ; Guy's Hospital. Clinical Transplantation Laboratory. London. United Kingdom
Cook, Mark A. ; University of Birmingham. Cancer Research UK Institute for Cancer Studies. Birmingham. United Kingdom
Carey, Sean ; University College. Institute of Urology and Nephrology. London. United Kingdom
Carrington, Christine V. F. ; The University of the West Indies. Faculty of Medical Sciences. Department of Pre-Clinical Sciences. St. Augustine. Trinidad and Tobago
Verity, David H. ; St. Thomas' Hospital-King's College. Department of Opthalmology. London. United Kingdom
Hameed, Kamran ; Aga Khan University Hospital. Department of Medicine. Karachi. Pakistan
Ramdath, Dan D. ; The University of the West Indies. Faculty of Medical Sciences. Department of Pre-Clinical Sciences. St. Augustine. Trinidad and Tobago
Chandanayingyong, Dasnayanee ; Siriraj Hospital. Department of Transfusion Medicine. Bangkok. Thailand
Leppert, Mark ; University of Utah. Eccles Center for Human Genetics. Salt Lake City, Utah. United States of America
Stephens, Henry A. F. ; University College. Institute of Urology and Nephrology. London. United Kingdom
Vaughan, R. W. ; Guy's Hospital. Clinical Transplantation Laboratory. London. United Kingdom

Immunogenetics ; Immunogenetics;56(4): 225-237, Jun 2004.

Article en En | MedCarib | ID: med-17714

Biblioteca responsable: TT5

ABSTRACT

ABSTRACT

The human leukocyte receptor complex (LRC) of Chromosome 19q13.4 encodes polymorphic and highly homologous genes that are expressed by cells of the immune system and regulate their function. There is an enormous diversity at the LRC, most particularly the variable number of killer cell immunoglobulin-like receptor (KIR) genes. KIR have been associated with several disease processes due to their interaction with polymorphic human leukocyte antigen class I molecules. We have assessed haplotype compositions, linkage disequilibrium patterns and allele frequencies in two Caucasoid population samples (n=54, n=100), using a composite of single-nucleotide polymorphism (SNP) markers and high-resolution, allele-specific molecular genotyping. Particular KIR loci segregated with SNP and other markers, forming two blocks that were separated by a region with a greater history of recombination. The KIR haplotype composition and allele frequency distributions were consistent with KIR having been subject to balancing selection (Watterson's F P=0.001). In contrast, there was a high inter - population heterogeneity measure for the LRC-encoded leukocyte immunoglobulin-like receptor A3 (LILRA3), indicating pathogen-driven disruptive selection (Wright's FST=0.32). An assessment of seven populations representative of African, Asian and Caucasoid ethnic groups (total n=593) provided little evidence for long-range LRC haplotypes. The different natural selection pressures acting on each locus may have contributed to a lack of linkage disequilibrium between them.

Asunto(s)

Humanos; Células Asesinas Naturales; Selección Genética; Trinidad y Tobago

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Colección: 01-internacional Base de datos: MedCarib Asunto principal: Selección Genética / Trinidad y Tobago / Células Asesinas Naturales Límite: Humans País/Región como asunto: Caribe ingles / Trinidad y tobago Idioma: En Revista: Immunogenetics Año: 2004 Tipo del documento: Article

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