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Titolo:
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
Autore:
Kidd, JR; Pakstis, AJ; Zhao, HY; Lu, RB; Okonofua, FE; Odunsi, A; Grigorenko, E; Bonne-Tamir, B; Friedlaender, J; Schulz, LO; Parnas, J; Kidd, KK;
Indirizzi:
Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA Yale Univ New Haven CT USA 06520 Med, Dept Genet, New Haven, CT 06520 USA Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06520 USA Yale Univ New Haven CT USA 06520 iol & Publ Hlth, New Haven, CT 06520 USA Yale Univ, Sch Med, Dept Psychol, New Haven, CT 06520 USA Yale Univ New Haven CT USA 06520 d, Dept Psychol, New Haven, CT 06520 USA Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06520 USA Yale Univ New Haven CT USA 06520 Ctr Child Study, New Haven, CT 06520 USA Natl Def Med Ctr, Tri Serv Gen Hosp, Dept Psychiat, Taipei, Taiwan Natl Def Med Ctr Taipei Taiwan Gen Hosp, Dept Psychiat, Taipei, Taiwan Univ Benin, Fac Med, Benin City, Nigeria Univ Benin Benin City NigeriaUniv Benin, Fac Med, Benin City, Nigeria Roswell Pk Canc Inst, Dept Gynecol Oncol, Buffalo, NY 14263 USA Roswell PkCanc Inst Buffalo NY USA 14263 ol Oncol, Buffalo, NY 14263 USA Tel Aviv Univ, Sackler Sch Med, Dept Genet, IL-69978 Tel Aviv, Israel Tel Aviv Univ Tel Aviv Israel IL-69978 Genet, IL-69978 Tel Aviv, Israel Temple Univ, Dept Anthropol, Philadelphia, PA 19122 USA Temple Univ Philadelphia PA USA 19122 thropol, Philadelphia, PA 19122 USA Univ Wisconsin, Dept Hlth Sci, Milwaukee, WI 53201 USA Univ Wisconsin Milwaukee WI USA 53201 t Hlth Sci, Milwaukee, WI 53201 USA Kommune Hosp, Inst Prevent Med, Copenhagen, Denmark Kommune Hosp Copenhagen Denmark , Inst Prevent Med, Copenhagen, Denmark
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 66, anno: 2000,
pagine: 1882 - 1899
SICI:
0002-9297(200006)66:6<1882:HALDAT>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMORPHIC DNA HAPLOTYPES; PRENATAL-DIAGNOSIS; PHENYLKETONURIA FAMILIES; MAXIMUM-LIKELIHOOD; MOLECULAR ANALYSIS; RFLP HAPLOTYPES; PCR DETECTION; DRD2 LOCUS; GENE; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
69
Recensione:
Indirizzi per estratti:
Indirizzo: Kidd, JR Yale Univ, Sch Med, Dept Genet, 333 Cedar St,SHM 1353, New Haven,CT 06520USA Yale Univ 333 Cedar St,SHM 1353 New Haven CT USA 06520 T 06520USA
Citazione:
J.R. Kidd et al., "Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations", AM J HU GEN, 66(6), 2000, pp. 1882-1899

Abstract

Because defects in the phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linkage disequilibrium soon after the gene was cloned. Studies in the 1980s concentrated on European populations in which PKU was common and showed that haplotype-frequency variation exists between some regions of the world. In European populations, linkage disequilibrium generally was found not to exist between RFLPs at opposite ends of the gene but was found to exist among the RFLPs clustered at each end. We have now undertaken the first global survey of normal variation and disequilibrium across the PAH gene. Four well-mapped single-nucleotide polymorphisms (SNPs) spanning similar to 75 kb, two near each end of the gene, were selected to allow linkage disequilibrium across most of the gene to be examined. These SNPs were studied as PCR-RFLP markers in samples of, on average, 50 individuals for each of 29 populations, including, for the first time, multiple populations from Africa and from the Americas. All four sites are polymorphic in all 29 populations. Although all but 5 of the 16 possible haplotypes reach frequencies >5% somewhere in the world, no haplotype was seen in all populations. Overall linkage disequilibriumis highly significant in all populations, but disequilibrium between the opposite ends is significant only in Native American populations and in one African population. This study demonstrates that the physical extent of linkage disequilibrium can differ substantially among populations from different regions of the world, because of both ancient genetic drift in the ancestor common to a large regional group of modern populations and recent genetic drift affecting individual populations.

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Documento generato il 31/03/20 alle ore 22:38:03