Sequence analysis of a novel allele HLA-C*01:78.
- Author:
Daming WANG
1
;
Hongyan ZOU
;
Yunping XU
;
Jianxin ZHEN
;
Liumei HE
;
Suqing GAO
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Asian Continental Ancestry Group; genetics; Base Sequence; Exons; Female; HLA-C Antigens; genetics; Humans; Introns; Leukemia; genetics; Male; Molecular Sequence Data; Polymorphism, Single Nucleotide; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2014;31(4):511-514
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the genetic basis for a novel allele HLA-C*01:78.
METHODSGenomic DNA was extracted from peripheral blood using a QIAGEN quick DNA extraction kit. The regions encompassing HLA-C from exon 1 to intron 3 and intron 3 to 3'UTR were amplified and cloned using a cloning sequencing kit in order to split the two alleles apart. Selected clones were sequenced to include exons 2 to 4.
RESULTSSequencing results have indicated the HLA-C alleles of the proband to be a novel C*03:04 allele. The sequence has been submitted to GenBank (KF049216). BLAST analysis has confirmed the novel allele to have one nucleotide difference as C*01:03 at genomic nt316C>A (codon 82CGC>AGC) in exon 2, which has resulted in replacement of one amino acid (82R>S).
CONCLUSIONThe novel allele has been officially named as C*01:78 by the WHO Nomenclature Committee. The HLA allele type of the proband was therefore A*02:07, 24:02; B*40:01, 46:01; C*01:78, 03:04; DQB1*05:02, 05:02; DRB1*16:02, 16:02.
