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
Major histocompatibility complex LO000374OMHC6p21.3
Synonyms: HLA ;
Sites List: 
See Sites List
External Resources: dbMHC database   
References: See References
Locus Description: 

The major histocompatibility complex (MHC) is a series of closely linked and highly polymorphic genes found in humans on short arm of chromosome number 6. MHC spans almost 4 megabases of chromosome 6 and includes more than 200 known genes(128 genes as well as 96 pseudogenes).

The most intensely studied HLA genes are the nine classical Mhc genes: HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, and HLA-DRB1. The MHC is divided into three regions: Class I, II, and III. The A, B, and C genes belong to MHC class I while the six D genes belong to class II.

MHC shows a high degree of allelic diversity especially among the nine classical genes.The most diverse loci HLA-A, HLA-B, and HLA-DRB1, have roughly 250, 500, and 300 known alleles respectively.

Due to the extreme complexity and evolving nomenclature for allelic specification of these genes, ALFRED does not curate allele frequencies data for these loci.The exception is HLADQA1 because it is typed as part of a kit for polymarker (PM) loci in forensic population studies.DNA and clinical data related to the human Major Histocompatibility Complex (MHC) are available through a publicly accessible NCBI database, dbMHC.


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
HLA-DQA1   17

References:
- Martinovic I, Bakran M, Chaventre A, Janicijevic B, Jovanovic V, Smolej-Narancic N, Kastelan A, Grubic Z, Zunec R, Roberts DF, Rudan P. "Application of HLA class II polymorphism analysis to the study of the population structure of the Island of Krk, Croatia.". Hum. Biol. 69:819-829. (1997)
Online citation.

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© 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