PMID- 38171559
OWN - NLM
STAT- MEDLINE
DCOM- 20240105
LR  - 20240105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 41
IP  - 1
DP  - 2024 Jan 10
TI  - [Genetic analysis of a Chinese pedigree with an allele dropout at the HLA-B 
      locus].
PG  - 47-51
LID - 10.3760/cma.j.cn511374-20221020-00701 [doi]
AB  - OBJECTIVE: To delineate a deletional mutation of the HLA-B gene in a Chinese 
      pedigree. METHODS: A female patient with acute myeloid leukemia who had visited 
      Liuzhou People's Hospital in April 2022 was selected as the study subject. 
      Routine human leukocyte antigen (HLA) was determined by using PCR-sequence 
      specific oligonucleotide polymorphism (PCR-SSOP) and PCR-sequence-based typing 
      (PCR-SBT) methods. Next generation sequencing (NGS) was used to validate the 
      candidate variant in the HLA-B gene. RESULTS: The PCR-SBT and SSOP results for 
      the HLA-B locus were inconsistent for the patient and her daughter. The SSOP 
      results of the two individuals were HLA-B*35:01, 40:02 and HLA-B*35:01, 40:01, 
      respectively. However, the PCR-SBT results has indicated a mismatch with the 
      nearest HLA-B*35:01 at exon 4. NGS results showed that the HLA-B*35:01 had a 9 bp 
      deletion in the intron 5. The patient's husband was HLA-B*40:01, 58:01, which was 
      normal. CONCLUSION: The variant in intron 5 of the HLA-B gene in this pedigree 
      has mapped to a primer-binding region for the SBT reagent, which has affected the 
      accuracy of PCR-SBT results.
FAU - He, Liumei
AU  - He L
AD  - Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong 
      518020, China. 958567432@qq.com.
FAU - Quan, Zhanrou
AU  - Quan Z
FAU - Zhong, Yanping
AU  - Zhong Y
FAU - Zou, Hongyan
AU  - Zou H
LA  - chi
PT  - English Abstract
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 Antigens)
RN  - 0 (HLA-B Antigens)
SB  - IM
MH  - Humans
MH  - Female
MH  - Alleles
MH  - Pedigree
MH  - *HLA Antigens/genetics
MH  - *HLA-B Antigens/genetics
MH  - China
MH  - Histocompatibility Testing/methods
MH  - Sequence Analysis, DNA/methods
EDAT- 2024/01/04 11:43
MHDA- 2024/01/05 06:43
CRDT- 2024/01/03 20:43
PHST- 2024/01/05 06:43 [medline]
PHST- 2024/01/04 11:43 [pubmed]
PHST- 2024/01/03 20:43 [entrez]
AID - 940641009 [pii]
AID - 10.3760/cma.j.cn511374-20221020-00701 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jan 10;41(1):47-51. doi: 
      10.3760/cma.j.cn511374-20221020-00701.