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
| 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
| 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 |
Orange = 1 to 3%
Yellow = 0.1 to 1%
References
- ^ 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.
- ^ 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.
- ^ derived from IMGT/HLA
- ^ 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.