PMID- 34365629
OWN - NLM
STAT- MEDLINE
DCOM- 20210810
LR  - 20220531
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 8
DP  - 2021 Aug 10
TI  - [Characterization of a rare HLA-C*08:84 allele and analysis of its 3-D molecular 
      structure].
PG  - 798-802
LID - 10.3760/cma.j.cn511374-20200909-00655 [doi]
AB  - OBJECTIVE: To verify a rare allele of human leukocyte antigen (HLA) and analyze 
      its inheritance and 3D molecular structure. METHODS: PCR-sequence-based typing, 
      PCR-single strand oligonucleotide polymorphism and single allele-specific 
      sequencing were carried out to characterize the rare HLA-C allele and its 
      transmission in the family. Its protein structure was modeled by using 
      SWISS-MODEL, Phyre2 and FATCAT software. RESULTS: Analysis indicated that the 
      rare allele (HLA-C*08:84) has transmitted from the proband's mother and has 
      differed from HLA-C*08:01 by a single base (g.512G>C), resulting in substitution 
      of an amino acid (p.Trp147Ser). Modeling of the 3D structure of the encoded 
      protein indicated that the amino acid residue variation is located at the alpha 2 
      helix, which participates the formation of pocket F. Modeling of the structures 
      of C*08:84, C*08:01, C*08:02, C*08:03 and C*08:22 has suggested significant 
      variation in the peptide binding regions of the backbone, with root mean square 
      errors being 1.70 nm, 1.79 nm, 0.71 nm and 1.70 nm, respectively. CONCLUSION: A 
      rare HLA-C*08:84 allele has been identified, and its clinical significance has 
      been analyzed.
FAU - Wang, Tianju
AU  - Wang T
AD  - HLA Typing Laboratory, Shaanxi Provincial Blood Center, Xi'an, Shaanxi 710061, 
      China. qijun0802@163.com.
FAU - Qi, Jun
AU  - Qi J
FAU - Li, Hengxin
AU  - Li H
FAU - Hao, Jian
AU  - Hao J
FAU - Wang, Xiaofang
AU  - Wang X
FAU - Wang, Manni
AU  - Wang M
FAU - Fang, Jie
AU  - Fang J
FAU - Wu, Junhua
AU  - Wu J
FAU - Shang, Lixia
AU  - Shang L
FAU - Chen, Le
AU  - Chen L
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-C Antigens)
SB  - IM
MH  - Alleles
MH  - Base Sequence
MH  - *HLA-B Antigens/genetics
MH  - *HLA-C Antigens/genetics
MH  - Humans
MH  - Molecular Structure
MH  - Sequence Analysis, DNA
EDAT- 2021/08/09 06:00
MHDA- 2021/08/11 06:00
CRDT- 2021/08/08 21:04
PHST- 2021/08/08 21:04 [entrez]
PHST- 2021/08/09 06:00 [pubmed]
PHST- 2021/08/11 06:00 [medline]
AID - 940638167 [pii]
AID - 10.3760/cma.j.cn511374-20200909-00655 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):798-802. doi: 
      10.3760/cma.j.cn511374-20200909-00655.