View source for HLA-B47

{{Short description|Human leukocyte antigen serotype}}
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| align="center" colspan="2" | <div style="font-size:medium; line-height:120%;">major histocompatibility complex (human), class I, B47</div>
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| bgcolor="#e7dcc3" | Alleles
| bgcolor="#eeeeee" | B*4701 <br> B*4702 <br>  B*4703 <br>
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| colspan="2" bgcolor="#dddddd" | '''Structure''' (See [[HLA-B]])
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| bgcolor="#e7dcc3" | [[Human Genome Organisation|Symbol(s)]]
| bgcolor="#eeeeee" | [https://web.archive.org/web/20070821210135/http://www.gene.ucl.ac.uk/nomenclature/data/get_data.php?hgnc_id=4932 HLA-B]
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| bgcolor="#e7dcc3" | [[European Bioinformatics Institute|EBI-HLA]]
| bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4701 B*4701]
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| bgcolor="#e7dcc3" | [[European Bioinformatics Institute|EBI-HLA]]
| bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4702 B*4702]
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| bgcolor="#e7dcc3" | [[European Bioinformatics Institute|EBI-HLA]]
| bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4703 B*4703]
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| bgcolor="#e7dcc3" | [[Locus (genetics)|Locus]]
| bgcolor="#eeeeee" | [[Chromosome 6 (human)|chr.6]] ''[https://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=6p21.31 6p21.31]''
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'''HLA-B47''' (B47) is an [[Human leukocyte antigen|HLA]]&ndash;[[HLA-B|B]] [[serotype]]. The serotype identifies the HLA-B*47 gene products (B*4701, B*4702, B*4703) .<ref name="pmid15787720">{{cite journal  |pmc=2848993 |year=2010 |last1=Marsh |first1=S. G. |title=Nomenclature for factors of the HLA system, 2010 |journal=Tissue Antigens |volume=75 |issue=4 |pages=291–455 |last2=Albert |first2=E. D. |last3=Bodmer |first3=W. F. |last4=Bontrop |first4=R. E. |last5=Dupont |first5=B. |last6=Erlich |first6=H. A. |last7=Fernández-Viña |first7=M. |last8=Geraghty |first8=D. E. |last9=Holdsworth |first9=R. |last10=Hurley |first10=C. K. |last11=Lau |first11=M. |last12=Lee |first12=K. W. |last13=Mach |first13=B. |last14=Maiers |first14=M. |last15=Mayr |first15=W. R. |last16=Müller |first16=C. R. |last17=Parham |first17=P. |last18=Petersdorf |first18=E. W. |last19=Sasazuki |first19=T. |last20=Strominger |first20=J. L. |last21=Svejgaard |first21=A. |last22=Terasaki |first22=P. I. |last23=Tiercy |first23=J. M. |last24=Trowsdale |first24=J. |pmid=20356336 |doi=10.1111/j.1399-0039.2010.01466.x }}</ref> Comparison of B47 nucleotide sequence with other HLA-B sequences shows a segment of 228 bp identical with [[HLA-B44|B44]] in the alpha 1 domain and a segment of 218 bp identical with [[HLA-B27|B27]] in the alpha 2 domain, but only a 91 bp segment of identity with [[HLA-B13|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.<ref name="pmid3257938">{{cite journal |vauthors=Zemmour J, Ennis PD, Parham P, Dupont B | title = Comparison of the structure of HLA-B47 to HLA-B13 and its relationship to 21-hydroxylase deficiency | journal = Immunogenetics | volume = 27 | issue = 4 | pages = 281–7 | year = 1988 | pmid = 3257938 | doi =10.1007/BF00376123 }}</ref> 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-A#Historical Guide to Understanding Nomenclature|HLA-serotype tutorial]])
==Serotype==
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|+ B47 serotype recognition of Some HLA B*47 allele-group gene products<ref>[http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA]</ref>
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| style="width:60px" | B*47 || style="width:60px" | '''B47'''
| style="width:60px" | Other    || style="width:60px" | Sample
|- style="background:#f0f0ff"
| allele || % || % || size (N)
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| style = "background:#e8e8f8" | 4701 || 50 || 37|| 317
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| style = "background:#e8e8f8" | 4702 || 40 || 40 || 5
|-
| style = "background:#e8e8f8" | 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 [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency|Adrenal 21-hydroxylase deficiency]].<ref name="pmid3257938" />  The {{gene|CYP21}} gene is located close to B47 between {{gene|HLA-B}} and {{Gene|HLA-DRB1}} locus.
==B*4701 frequencies==
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|+ '''HLA B*4701 frequencies'''
|- style="background:#efe5ef"
|  ||   || freq
|- style="background:#eee5ef"
| ref. || align="left" |Population || style="width:50px" | (%)
|-
| <ref name = "pmid12753660">{{cite journal |vauthors=Middleton D, Menchaca L, Rood H, Komerofsky R | title = New allele frequency database | journal = Tissue Antigens | volume = 61 | issue = 5 | pages = 403–7 | year = 2003 | pmid = 12753660 | doi =10.1034/j.1399-0039.2003.00062.x | doi-access = free }}</ref>  || align="left"|[[Bamileke]] ([[Cameroon]])||2.6
|-
| <ref name = "pmid12753660"/> || align="left"|[[Zapotec peoples|Zapotec]] ([[Oaxaca]], [[Mexico]])||2.2
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| <ref name = "pmid12753660"/> || align="left"|Niokholo [[Mandinka people|Mandinka]] ([[Senegal]]) ||1.6
|-
| <ref name = "pmid12753660"/> || align="left"|Mbenzele [[Pygmies|Pygmy]] (CAR)||1.5
|-
| <ref name = "pmid12753660"/> || align="left"|[[Nandi people|Nandi]] (Kenya)||1.3
|-
| <ref name = "pmid12753660"/> || align="left"|[[Sudan]]ese||1.3
|-
| <ref name = "pmid12753660"/> || align="left"|[[Yaoundé]] City (Cameroon) ||1.1
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| <ref name = "pmid12753660"/> || align="left"|[[Lusaka]] ([[Zambia]])||1.1
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| <ref name = "pmid12753660"/> || align="left"|Central Portugal||1.0
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| <ref name = "pmid12753660"/> || align="left"|[[Bulgaria]]||0.9
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| <ref name = "pmid12753660"/> || align="left"|[[Czech Republic]]||0.9
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| <ref name = "pmid12753660"/> || align="left"|[[Cape Verde Islands]]||0.8
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| <ref name = "pmid12753660"/> || align="left"|[[Berber people|Berber]] ([[Morocco]])||0.7
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| <ref name = "pmid12753660"/> || align="left"|[[Finland]]||0.6
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| <ref name = "pmid12753660"/> || align="left"|[[Svans]] ([[Georgia (country)|Georgia]])||0.6
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| <ref name = "pmid12753660"/> || align="left"|[[Bergamo]] (Italy)||0.6
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| <ref name = "pmid12753660"/> || align="left"|[[Romanians]]||0.6
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| <ref name = "pmid12753660"/> || align="left"|North Delhi ((India))||0.5
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| <ref name = "pmid12753660"/> || align="left"|Orkney Isles ([[Scotland]]) ||0.5
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| <ref name = "pmid12753660"/> || align="left"|Basque ([[Gipuzkoa]], Spain) ||0.5
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| <ref name = "pmid12753660"/> || align="left"|Southeastern (France)||0.4
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| <ref name = "pmid12753660"/> || align="left"|[[Oman]]||0.4
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| <ref name = "pmid12753660"/> || align="left"|Kenya ||0.3
|}
[[Image:B4701 Frequencies.PNG|frame|right|Regions of Africa with Higher B4701 frequencies<br/>Orange = 1 to 3%<br/>Yellow = 0.1 to 1%]]
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==References==
{{reflist}}
{{HLA-B serotypes}}
{{DEFAULTSORT:Hla-B47}}
[[Category:HLA-B alleles|4]]