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) . 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. 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 productsderived from IMGT/HLA 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. The gene is located close to B47 between and locus.
B*4701 frequencies + HLA B*4701 frequencies freq ref. Population (%) Bamileke (Cameroon)2.6 Zapotec (Oaxaca, Mexico)2.2 Niokholo Mandinka (Senegal) 1.6 Mbenzele Pygmy (CAR)1.5 Nandi (Kenya)1.3 Sudanese1.3 Yaoundé City (Cameroon) 1.1 Lusaka (Zambia)1.1 Central Portugal1.0 Bulgaria0.9 Czech Republic0.9 Cape Verde Islands0.8 Berber (Morocco)0.7 Finland0.6 Svans (Georgia)0.6 Bergamo (Italy)0.6 Romanians0.6 North Delhi ((India))0.5 Orkney Isles (Scotland) 0.5 Basque (Gipuzkoa, Spain) 0.5 Southeastern (France)0.4 Oman0.4 Kenya 0.3
References