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Titolo:
TAP1 polymorphisms in several human ethnic groups: Characteristics, evolution, and genotyping strategies
Autore:
Tang, JM; Freedman, DO; Allen, S; Karita, E; Musonda, R; Braga, C; Margolick, J; Kaslow, RA;
Indirizzi:
Univ Alabama, Program Epidemiol Infect & Immun, Sch Publ Hlth, Birmingham,AL 35294 USA Univ Alabama Birmingham AL USA 35294 h Publ Hlth, Birmingham,AL 35294 USA Univ Alabama, Dept Med, Div Geog Med, Birmingham, AL 35294 USA Univ Alabama Birmingham AL USA 35294 v Geog Med, Birmingham, AL 35294 USA Univ Alabama, Dept Epidemiol & Int Hlth, Birmingham, AL 35294 USA Univ Alabama Birmingham AL USA 35294 & Int Hlth, Birmingham, AL 35294 USA Natl AIDS Control Program, Kigali, Rwanda Natl AIDS Control Program Kigali Rwanda Control Program, Kigali, Rwanda Trop Dis Res Ctr, Ndona, Zambia Trop Dis Res Ctr Ndona ZambiaTrop Dis Res Ctr, Ndona, Zambia Ctr Pesquisas Aggeu Magalhaes, Recife, PE, Brazil Ctr Pesquisas Aggeu Magalhaes Recife PE Brazil lhaes, Recife, PE, Brazil Johns Hopkins Univ, Sch Publ Hlth, Baltimore, MD 21218 USA Johns Hopkins Univ Baltimore MD USA 21218 l Hlth, Baltimore, MD 21218 USA
Titolo Testata:
HUMAN IMMUNOLOGY
fascicolo: 3, volume: 62, anno: 2001,
pagine: 256 - 268
SICI:
0198-8859(200103)62:3<256:TPISHE>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAJOR HISTOCOMPATIBILITY COMPLEX; CLASS-I MOLECULES; HLA CLASS-I; DEPENDENT DIABETES-MELLITUS; ANTIGEN-PROCESSING TAP; GRADIENT GEL-ELECTROPHORESIS; LINKAGE DISEQUILIBRIUM; RHEUMATOID-ARTHRITIS; PEPTIDE-TRANSPORT; GENE POLYMORPHISM;
Keywords:
evolution; genetics; genotyping; polymorphism; SNP; TAP1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
86
Recensione:
Indirizzi per estratti:
Indirizzo: Tang, JM Univ Alabama, Program Epidemiol Infect & Immun, Sch Publ Hlth, 610 Ryals Publ Hlth Bldg,1665 Univ Blvd, Birmingham, AL 35294 USA Univ Alabama 610 Ryals Publ Hlth Bldg,1665 Univ Blvd Birmingham AL USA 35294
Citazione:
J.M. Tang et al., "TAP1 polymorphisms in several human ethnic groups: Characteristics, evolution, and genotyping strategies", HUMAN IMMUN, 62(3), 2001, pp. 256-268

Abstract

Genetic variations in the locus encoding the transporter associated with antigen processing, subunit 1 (TAP1), were systematically studied using samples from Caucasians, Africans, Brazilians, and compared with data from:chimpanzees. PCR-amplified genomic se quences corresponding to the 11 exons were analyzed by single-strand conformation polymorphism (SSCP) and sequencing. Six nonsynonymous and 2 synonymous single nucleotide polymorphisms (SNPs)were found to be common in-one ethnic group or another, and they involved codons 254 (Gly-GGC/Gly-GGT) in exon 3, 333 (Ile-ATC/Val-GTC) in exon 4, 370 (Ala-GCT/Val-GTT) in exon 5,- 458 (Val-GTG/Leu-TTG) in exon 6,518 (Val-GTC/Ile-ATC) in exon 7, 637 (Asp-GAC/Gly-GGC), 648 (Arg-CGA/Gln-CAA) and 661 (Pro-CCG/Pro-CCA) in exon 10. At each SNP site the sequence listed first was predominant.:in all ethnic groups. Several SNPs segregated on the same chromosome regardless of populations and species. Together, the SNPs produced5 major human TAP1 alleles, 4 of which matched the officially recognized alleles *0101, *02011, *0301, and *0401; the 5th allele differed from each of those by at least 4 SNPs. Overall, TAP1*0101 was the predominant allele in all ethnic groups, with frequencies ranging from 0.667 in Zambians to 0.808 in US Caucasians. The TAP1*0401 frequency showed the greatest differencebetween Africans (0.221-0.254) and Caucasians (0.033), with Brazilians (0.058) fitting in the middle. Consistent with earlier work based on Caucasians and gorillas, *0101 appeared to be the newest human TAP1 allele, suggesting a dramatic spread of *0101 into all human populations examined. Characterization of TAP1 polymorphisms allowed the design of a PCR-based genotypingscheme that targeted 7 SNP sites and required 2 separate genotyping techniques. Human Immunology 62, 256-268 (2001). (C) American Society for Histocompatibility and Immunogenetics, 2001. Published by Elsevier Science Inc.

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Documento generato il 10/07/20 alle ore 16:00:27