PMID- 30348993
OWN - NLM
STAT- MEDLINE
DCOM- 20190321
LR  - 20200225
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 64
IP  - 1
DP  - 2019 Jan
TI  - Revisiting the potential power of human leukocyte antigen (HLA) genes on 
      relationship testing by massively parallel sequencing-based HLA typing in an 
      extended family.
PG  - 29-38
LID - 10.1038/s10038-018-0521-0 [doi]
AB  - The human leukocyte antigen (HLA) genes are the most polymorphic genes in the 
      human genome and have great power in forensic applications, especially in 
      relationship testing and personal identification. However, the extreme 
      polymorphism of HLA has made unambiguous genotyping of these genes very 
      challenging and resulted in the limited application in relationship testing. 
      Fortunately, massively parallel sequencing (MPS) technology offers the promise of 
      unambiguous and high-throughput HLA typing. In this study, 11 HLA genes were 
      typed in one extended family residing in North China and encompassing six 
      generations. Phase-resolved genotypes for HLA genes were generated and HLA 
      haplotype structure was defined. The paternity/kinship index, or in other words, 
      likelihood ratio (LR) was calculated. A total of 88 alleles were identified, of 
      which eight alleles were newly discovered. The inheritance of HLA alleles 
      followed Mendelian law. With the discovery of new HLA alleles and three 
      recombination events, a total of eleven new HLA haplotypes were identified in 
      this population. LR distribution showed that, when HLA alleles were applied, the 
      Log(10)LR for a single locus could reach very high and the median average 
      Log(10)LRs of HLA genes were much higher than that of short tandem repeat loci. 
      The result showed that high-throughput HLA genotyping could be achieved rapidly 
      by MPS, and the contribution of HLA genes on system performance could be high, 
      which may be applied as a supplement in forensic genetics studies. This study was 
      also valuable in demonstrating the genetic mechanisms governing the generation of 
      polymorphisms of the HLA genes.
FAU - Wu, Riga
AU  - Wu R
AUID- ORCID: 0000-0002-8594-2843
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
AD  - Guangdong Province Translational Forensic Medicine Engineering Technology 
      Research Center, Sun Yat-sen University, Guangzhou, 510089, P.R. China.
FAU - Li, Haixia
AU  - Li H
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Peng, Dan
AU  - Peng D
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Li, Ran
AU  - Li R
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Zhang, Yinming
AU  - Zhang Y
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Hao, Bo
AU  - Hao B
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Huang, Erwen
AU  - Huang E
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China.
FAU - Zheng, Chenghao
AU  - Zheng C
AD  - The Second Clinical Medical school (Zhujiang Hospital), Southern Medical 
      University, Guangzhou, 510280, P.R. China.
FAU - Sun, Hongyu
AU  - Sun H
AUID- ORCID: 0000-0002-5926-4495
AD  - Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen 
      University, Guangzhou, 510089, P.R. China. sunhongyu2002@163.com.
AD  - Guangdong Province Translational Forensic Medicine Engineering Technology 
      Research Center, Sun Yat-sen University, Guangzhou, 510089, P.R. China. 
      sunhongyu2002@163.com.
LA  - eng
GR  - 81801878/National Natural Science Foundation of China (National Science 
      Foundation of China)/
PT  - Journal Article
DEP - 20181022
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Family
MH  - Female
MH  - Genetic Testing/*methods
MH  - Genome, Human
MH  - Genotype
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Histocompatibility Testing/*methods
MH  - Humans
MH  - Male
MH  - *Polymorphism, Genetic
MH  - Sequence Analysis, DNA/*methods
EDAT- 2018/10/24 06:00
MHDA- 2019/03/22 06:00
CRDT- 2018/10/24 06:00
PHST- 2018/06/12 00:00 [received]
PHST- 2018/10/01 00:00 [accepted]
PHST- 2018/09/27 00:00 [revised]
PHST- 2018/10/24 06:00 [pubmed]
PHST- 2019/03/22 06:00 [medline]
PHST- 2018/10/24 06:00 [entrez]
AID - 10.1038/s10038-018-0521-0 [pii]
AID - 10.1038/s10038-018-0521-0 [doi]
PST - ppublish
SO  - J Hum Genet. 2019 Jan;64(1):29-38. doi: 10.1038/s10038-018-0521-0. Epub 2018 Oct 
      22.