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] 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] Kenya 0.3

References

  1. ↑ Marsh SG; Albert ED; Bodmer WF et al. (2005). "Nomenclature for factors of the HLA system, 2004". Tissue Antigens 65 (4): 301–69. doi:10.1111/j.1399-0039.2005.00379.x. PMID 15787720.
  2. ↑ 2.0 2.1 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. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 4.10 4.11 4.12 4.13 4.14 4.15 4.16 4.17 4.18 4.19 4.20 4.21 4.22 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.