PMID- 19392803 OWN - NLM STAT- MEDLINE DCOM- 20090810 LR - 20221207 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 73 IP - 6 DP - 2009 Jun TI - Characterization of a new HLA-C allele in a Chinese family by sequence-based typing: HLA-Cw*0348. PG - 616-8 LID - 10.1111/j.1399-0039.2009.01250.x [doi] AB - The novel human leukocyte antigen (HLA)-Cw*0348 allele was identified by sequence-based typing in a Chinese family. This allele shows that the sequences of exons 1-3 of HLA-Cw*0348 are identical to those of HLA-Cw*030401 except for a nucleotide substitution that changes CCG to CTG at codon 57, resulting in an amino acid change from Pro to Leu in the protein, and this is a unique nucleotide change among the HLA-C alleles, suggesting a point mutation mechanism. The extended haplotype carrying the new allele was deduced from the family group typing and defined as A*110101, B*1301, Cw*0348, DRB1*0405, and DQB1*0402. FAU - Zou, H-Y AU - Zou HY AD - Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China. shallylizhen@yahoo.com.cn FAU - Li, Z AU - Li Z FAU - Deng, Z-H AU - Deng ZH LA - eng PT - Journal Article DEP - 20090406 PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-C Antigens) SB - IM MH - Adult MH - Alleles MH - Amino Acid Substitution/*genetics MH - Asian People/*genetics MH - Base Sequence MH - Exons/genetics MH - HLA-C Antigens/*genetics MH - Humans MH - Male MH - Molecular Sequence Data MH - Pedigree MH - Sequence Alignment MH - Sequence Analysis, DNA EDAT- 2009/04/28 09:00 MHDA- 2009/08/11 09:00 CRDT- 2009/04/28 09:00 PHST- 2009/04/28 09:00 [entrez] PHST- 2009/04/28 09:00 [pubmed] PHST- 2009/08/11 09:00 [medline] AID - TAN1250 [pii] AID - 10.1111/j.1399-0039.2009.01250.x [doi] PST - ppublish SO - Tissue Antigens. 2009 Jun;73(6):616-8. doi: 10.1111/j.1399-0039.2009.01250.x. Epub 2009 Apr 6.