{{Short description|Human leukocyte antigen serotype}} {| id="drugInfoBox" style="float: right; clear: right; margin: 0 0 0.5em 1em; background: #ffffff;" class="toccolours" border=0 cellpadding=0 align=right width="240px" |- | align="center" colspan="3" | |- style="text-align: center; line-height: 1.00;background:#eeeeee" | colspan="3" color="white" | |- | align="center" colspan="2" | |- | align="center" colspan="2" | <div style="font-size:medium; line-height:120%;">major histocompatibility complex (human), class I, B47</div> |- | bgcolor="#e7dcc3" | Alleles | bgcolor="#eeeeee" | B*4701 <br> B*4702 <br> B*4703 <br> |- | colspan="2" bgcolor="#dddddd" | '''Structure''' (See HLA-B) |- | bgcolor="#e7dcc3" | 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] |- | bgcolor="#e7dcc3" | EBI-HLA | bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4701 B*4701] |- | bgcolor="#e7dcc3" | EBI-HLA | bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4702 B*4702] |- | bgcolor="#e7dcc3" | EBI-HLA | bgcolor="#eeeeee" | [http://www.ebi.ac.uk/cgi-bin/imgt/hla/get_allele.cgi?B*4703 B*4703] |- | bgcolor="#e7dcc3" | Locus | bgcolor="#eeeeee" | chr.6 ''[https://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=6p21.31 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) .<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 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.<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-serotype tutorial)
==Serotype== {| border="0" cellspacing="0" cellpadding="0" align="center" style="text-align:center; background:#ffffff; margin-right: 1em; border:2px #e0e0ff solid;" |+ 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> |- style="background:#f0f0ff" | style="width:60px" | B*47 || style="width:60px" | '''B47''' | style="width:60px" | Other || style="width:60px" | Sample |- style="background:#f0f0ff" | allele || % || % || size (N) |- | style = "background:#e8e8f8" | 4701 || 50 || 37|| 317 |- | 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 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== {|border="0" cellspacing="0" cellpadding="1" align="left" style="text-align:center; margin-right: 3em; border:1px #ffeebb solid; background:#f8f6f8; " |+ '''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 (Oaxaca, Mexico)||2.2 |- | <ref name = "pmid12753660"/> || align="left"|Niokholo Mandinka (Senegal) ||1.6 |- | <ref name = "pmid12753660"/> || align="left"|Mbenzele Pygmy (CAR)||1.5 |- | <ref name = "pmid12753660"/> || align="left"|Nandi (Kenya)||1.3 |- | <ref name = "pmid12753660"/> || align="left"|Sudanese||1.3 |- | <ref name = "pmid12753660"/> || align="left"|Yaoundé City (Cameroon) ||1.1 |- | <ref name = "pmid12753660"/> || align="left"|Lusaka (Zambia)||1.1 |- | <ref name = "pmid12753660"/> || align="left"|Central Portugal||1.0 |- | <ref name = "pmid12753660"/> || align="left"|Bulgaria||0.9 |- | <ref name = "pmid12753660"/> || align="left"|Czech Republic||0.9 |- | <ref name = "pmid12753660"/> || align="left"|Cape Verde Islands||0.8 |- | <ref name = "pmid12753660"/> || align="left"|Berber (Morocco)||0.7 |- | <ref name = "pmid12753660"/> || align="left"|Finland||0.6 |- | <ref name = "pmid12753660"/> || align="left"|Svans (Georgia)||0.6 |- | <ref name = "pmid12753660"/> || align="left"|Bergamo (Italy)||0.6 |- | <ref name = "pmid12753660"/> || align="left"|Romanians||0.6 |- | <ref name = "pmid12753660"/> || align="left"|North Delhi ((India))||0.5 |- | <ref name = "pmid12753660"/> || align="left"|Orkney Isles (Scotland) ||0.5 |- | <ref name = "pmid12753660"/> || align="left"|Basque (Gipuzkoa, Spain) ||0.5 |- | <ref name = "pmid12753660"/> || align="left"|Southeastern (France)||0.4 |- | <ref name = "pmid12753660"/> || align="left"|Oman||0.4 |- | <ref name = "pmid12753660"/> || align="left"|Kenya ||0.3 |} frame|right|Regions of Africa with Higher B4701 frequencies<br/>Orange = 1 to 3%<br/>Yellow = 0.1 to 1% {{clear left}} ==References== {{reflist}}
{{HLA-B serotypes}}
{{DEFAULTSORT:Hla-B47}} 4