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