HLA-B47
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| major histocompatibility complex (human), class I, B47
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| 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 | |
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WikiDoc Resources for HLA-B47 | |
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Most recent articles on HLA-B47 | |
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Ongoing Trials on HLA-B47 at Clinical Trials.gov Clinical Trials on HLA-B47 at Google
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US National Guidelines Clearinghouse on HLA-B47
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Directions to Hospitals Treating HLA-B47 Risk calculators and risk factors for HLA-B47
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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.[1] 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.[1] The CYP21 gene is located close to B47 between HLA-B and HLA-DRB1 locus.
B*4701 frequencies
| freq | ||
| ref. | Population | (%) |
| [1] | Bamileke (Cameroon) | 2.6 |
| [1] | Zapotec (Oaxaca, Mexico) | 2.2 |
| [1] | Niokholo Mandinka (Senegal) | 1.6 |
| [1] | Mbenzele Pygmy (CAR) | 1.5 |
| [1] | Nandi (Kenya) | 1.3 |
| [1] | Sudanese | 1.3 |
| [1] | Yaounde City (Cameroon) | 1.1 |
| [1] | Lusaka (Zambia) | 1.1 |
| [1] | Central Portugal | 1.0 |
| [1] | Bulgaria | 0.9 |
| [1] | Czech Republic | 0.9 |
| [1] | Cape Verde Islands | 0.8 |
| [1] | Berber (Morocco) | 0.7 |
| [1] | Finland | 0.6 |
| [1] | Svans (Georgia) | 0.6 |
| [1] | Bergamo (Italy) | 0.6 |
| [1] | Romanians | 0.6 |
| [1] | North Delhi ((India)) | 0.5 |
| [1] | Orkney Isles (Scotland) | 0.5 |
| [1] | Basque (Guipuscoa, Spain) | 0.5 |
| [1] | Southeastern (France) | 0.4 |
| [1] | Oman | 0.4 |
| [1] | Kenya | 0.3 |
References
HLA-B Serotypes and allele groups |
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| HLA-B - B5 (B51 - B52) - B7 - B8 - B12 (B44 - B45) - B13 - B14]] (B64 - B65) - B15 (B62 - B63 - B70 - B71- B75 - B76 - B77) - B16 (B38 - B39) - B17 (B57 - B58) - B18 - B21 (B49 - B50) - B22 (B54 - B55 - B56) - B27 - B35 - B37 - B40 (B60 - B61) - B41 - B42 - B46 - B47 - B48 - B53 - B59 - B67 - B73 - B78 - B81 - B*82 - B*83 |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

