HLA-B47


HLA-B47 is an HLA-B serotype. The serotype identifies the HLA-B*47 gene products . 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 a gene that causes adrenal deficiency. B47 is generally low in frequency and with highest known frequencies in Central and Western Africa.

Serotype

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]. The gene is located close to B47 between and locus.

B*4701 frequencies