HLA-B47

Jump to: navigation, search
major histocompatibility complex (human), class I, B47
Alleles B*4701 </br> B*4702 </br> B*4703 </br>
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

WikiDoc Resources for HLA-B47

Articles

Most recent articles on HLA-B47

Most cited articles on HLA-B47

Review articles on HLA-B47

Articles on HLA-B47 in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on HLA-B47

Images of HLA-B47

Photos of HLA-B47

Podcasts & MP3s on HLA-B47

Videos on HLA-B47

Evidence Based Medicine

Cochrane Collaboration on HLA-B47

Bandolier on HLA-B47

TRIP on HLA-B47

Clinical Trials

Ongoing Trials on HLA-B47 at Clinical Trials.gov

Trial results on HLA-B47

Clinical Trials on HLA-B47 at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on HLA-B47

NICE Guidance on HLA-B47

NHS PRODIGY Guidance

FDA on HLA-B47

CDC on HLA-B47

Books

Books on HLA-B47

News

HLA-B47 in the news

Be alerted to news on HLA-B47

News trends on HLA-B47

Commentary

Blogs on HLA-B47

Definitions

Definitions of HLA-B47

Patient Resources / Community

Patient resources on HLA-B47

Discussion groups on HLA-B47

Patient Handouts on HLA-B47

Directions to Hospitals Treating HLA-B47

Risk calculators and risk factors for HLA-B47

Healthcare Provider Resources

Symptoms of HLA-B47

Causes & Risk Factors for HLA-B47

Diagnostic studies for HLA-B47

Treatment of HLA-B47

Continuing Medical Education (CME)

CME Programs on HLA-B47

International

HLA-B47 en Espanol

HLA-B47 en Francais

Business

HLA-B47 in the Marketplace

Patents on HLA-B47

Experimental / Informatics

List of terms related to HLA-B47


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)

Serotype

B47 serotype recognition of Some HLA B*47 allele-group gene products[3]
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.[2] The CYP21 gene is located close to B47 between HLA-B and HLA-DRB1 locus.

B*4701 frequencies

HLA B*4701 frequencies
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] Yaounde 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 (Guipuscoa, Spain) 0.5
[4] Southeastern (France) 0.4
[4] Oman 0.4
[4] Kenya 0.3
Regions of Africa with Higher B4701 frequencies
Orange = 1 to 3%
Yellow = 0.1 to 1%

References

  1. Marsh SG, Albert ED, Bodmer WF; et al. (2005). "Nomenclature for factors of the HLA system, 2004". Tissue Antigens. 65 (4): 301–69. PMID 15787720. doi:10.1111/j.1399-0039.2005.00379.x. 
  2. 2.0 2.1 Zemmour J, Ennis PD, Parham P, Dupont B (1988). "Comparison of the structure of HLA-B47 to HLA-B13 and its relationship to 21-hydroxylase deficiency". Immunogenetics. 27 (4): 281–7. PMID 3257938. 
  3. derived from IMGT/HLA
  4. 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 4.12 4.13 4.14 4.15 4.16 4.17 4.18 4.19 4.20 4.21 4.22 Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403–7. PMID 12753660.  External link in |title= (help)

Linked-in.jpg