HLA-B47

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

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)

Serotype

B47 serotype recognition of Some HLA B*47 allele-group gene products[3]
B*47 B47 Other Sample
allele % % size (N)
4701 50 37 317
4702 40 40 5
4703 25 50 4

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] Sudanese 1.3
[4] Yaoundé City (Cameroon) 1.1
[4] Lusaka (Zambia) 1.1
[4] Central Portugal 1.0
[4] Bulgaria 0.9
[4] Czech Republic 0.9
[4] Cape Verde Islands 0.8
[4] Berber (Morocco) 0.7
[4] Finland 0.6
[4] Svans (Georgia) 0.6
[4] Bergamo (Italy) 0.6
[4] Romanians 0.6
[4] North Delhi ((India)) 0.5
[4] Orkney Isles (Scotland) 0.5
[4] Basque (Gipuzkoa, Spain) 0.5
[4] Southeastern (France) 0.4
[4] Oman 0.4
[4] Kenya 0.3
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. ^ a b 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. ^ a b c d e f g h i j k l m n o p q r s t u v w Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database". Tissue Antigens. 61 (5): 403–7. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660.