HLA-B47

HLA-B47 (B47) is an HLA–B serotype. The serotype identifies the HLA-B*47 gene products (B*4701, B*4702, B*4703) .[1] Comparison of B47 nucleotide sequence with other HLA-B sequences shows a segment of 228 bp identical with B44 in the alpha 1 domain and a segment of 218 bp identical with B27 in the alpha 2 domain, but only a 91 bp segment of identity with B13 in the alpha 1 domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event.[2] B47 is linked to (close to on the chromosome) a gene that causes adrenal deficiency. B47 is generally low in frequency and with highest known frequencies in Central and Western Africa. (For terminology help see: HLA-serotype tutorial)

major histocompatibility complex (human), class I, B47
Alleles B*4701
B*4702
B*4703
Structure (See HLA-B)
Symbol(s) HLA-B
EBI-HLA B*4701
EBI-HLA B*4702
EBI-HLA B*4703
Locus chr.6 6p21.31

Serotype
B47 serotype recognition of Some HLA B*47 allele-group gene products[3]
B*47B47 OtherSample
allele%%size (N)
47015037317
470240405
470325504

Serotyping for B47 is poor and typing is best performed with SSP-PCR or gene sequencing.

Disease Associations

B47 is linked to Adrenal 21-hydroxylase deficiency.[2] The CYP21 gene is located close to B47 between HLA-B and HLA-DRB1 locus.

B*4701 frequencies
HLA B*4701 frequencies
freq
ref.Population(%)
[4]Bamileke (Cameroon)2.6
[4]Zapotec (Oaxaca, Mexico)2.2
[4]Niokholo Mandinka (Senegal)1.6
[4]Mbenzele Pygmy (CAR)1.5
[4]Nandi (Kenya)1.3
[4]Sudanese1.3
[4]Yaoundé City (Cameroon)1.1
[4]Lusaka (Zambia)1.1
[4]Central Portugal1.0
[4]Bulgaria0.9
[4]Czech Republic0.9
[4]Cape Verde Islands0.8
[4]Berber (Morocco)0.7
[4]Finland0.6
[4]Svans (Georgia)0.6
[4]Bergamo (Italy)0.6
[4]Romanians0.6
[4]North Delhi ((India))0.5
[4]Orkney Isles (Scotland)0.5
[4]Basque (Gipuzkoa, Spain)0.5
[4]Southeastern (France)0.4
[4]Oman0.4
[4]Kenya0.3
Regions of Africa with Higher B4701 frequencies
Orange = 1 to 3%
Yellow = 0.1 to 1%

References
  1. Marsh, S. G.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Fernández-Viña, M.; Geraghty, D. E.; Holdsworth, R.; Hurley, C. K.; Lau, M.; Lee, K. W.; Mach, B.; Maiers, M.; Mayr, W. R.; Müller, C. R.; Parham, P.; Petersdorf, E. W.; Sasazuki, T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.; Tiercy, J. M.; Trowsdale, J. (2010). "Nomenclature for factors of the HLA system, 2010". Tissue Antigens. 75 (4): 291–455. doi:10.1111/j.1399-0039.2010.01466.x. PMC 2848993. PMID 20356336.
  2. Zemmour J, Ennis PD, Parham P, Dupont B (1988). "Comparison of the structure of HLA-B47 to HLA-B13 and its relationship to 21-hydroxylase deficiency". Immunogenetics. 27 (4): 281–7. doi:10.1007/BF00376123. PMID 3257938.
  3. derived from IMGT/HLA
  4. Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403–7. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660. External link in |title= (help)
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