ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
b-globin gene clusterLO000298THBB@1111p15.5
Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information (Beta globin region)   Entrez Gene Locus Information (HBD gene)   OMIM description (HBD gene)   RefSeq mRNA sequence   
References: See References
Locus Description: b-globin gene cluster from 5¿ to 3¿ is comprised of
HBE1(hemoglobin, epsilon 1)gene (UID=LO000601H)
HBG2(hemoglobin, gamma G)gene (UID=LO000540J)
HBG1(hemoglobin, gamma A) gene (UID=LO000602I)
HBBP1(hemoglobin, beta pseudogene 1) gene (UID=LO000455O)
HBD(hemoglobin, delta) gene
HBB (hemoglobin, beta) gene. (UID=LO000456P)
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
2-site haplotype   52477915
3-site haplotype   526368331
7-Site haplotype   52915635
5-site haplotype   529156332
HBB   4

References:
- Bevilaqua LR, Mattevi VS, Ewald GM, Salzano FM, Coimbra CE Junior, Santos RV, Hutz MH. "Beta-globin gene cluster haplotype distribution in five Brazilian Indian tribes". Am. J. Phys. Anthropol. 98:395-401. (1995) Online citation.

- Guerreiro JF, Figueiredo MS, Zago MA. "Beta-globin gene cluster haplotypes of Amerindian populations from the Brazilian Amazon region". Hum. Hered. 44:142-149. (1994) Online citation.

- Kaufman L, Carnese FR, Goicoechea A, Dejean C, Salzano FM, Hutz MH. "Beta -globin gene cluster haplotypes in the Mapuche Indians of Argentina". Genet. Mol. Biol. 21:435-437. (1998) Online citation.

- Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH. "Phylogeny of human beta-globin haplotypes and its implications for recent human evolution". Am. J. Phys. Anthropol. 81:113-130. (1990) Online citation.

- Mesa NR, Mondragon MC, Soto ID, Parra MV, Duque C, Ortiz-Barrientos D, Garcia LF, Velez ID, Bravo ML, Munera JG, Bedoya G, Bortolini MC, Ruiz-Linares A. "Autosomal, mtDNA, and Y-chromosome diversity in Amerinds: pre- and post-Columbian patterns of gene flow in South America.". Am. J. Hum. Genet. 67:1277-1286. (2000) Online citation.

Top

© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan