PMID- 38397140
OWN - NLM
STAT- MEDLINE
DCOM- 20240226
LR  - 20240228
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 15
IP  - 2
DP  - 2024 Jan 24
TI  - Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) 
      Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.
LID - 10.3390/genes15020150 [doi]
LID - 150
AB  - In the realm of DNA testing with legal implications, the reliability and 
      precision of genetic markers play a pivotal role in confirming or negating 
      paternity claims. This study aimed to assess the potential utility of human 
      leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing 
      (MPS) technology as robust forensic markers for parentage testing involving 
      genetic deficiencies. It sought to redefine the significance of HLA genes in this 
      context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 
      paternity cases involving 16 commonly employed microsatellite loci were 
      presented. In instances where traditional aSTR analysis failed to establish 
      statistical certainty, kinship determination was pursued via HLA genotyping, 
      encompassing the amplification of 17 linked HLA loci. Within the framework of 
      this investigation, phase-resolved genotypes for HLA genes were meticulously 
      generated, resulting in the definition of 34 inherited HLA haplotypes. An 
      impressive total of 274 unique HLA alleles, which were classified at either the 
      field 3 or 4 level, were identified, including the discovery of four novel HLA 
      alleles. Likelihood ratio (LR) values, which indicated the likelihood of the 
      observed data under a true biological relationship versus no relationship, were 
      subsequently calculated. The analysis of the LR values demonstrated that the HLA 
      genes significantly enhanced kinship determination compared with the aSTR 
      analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive 
      outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS 
      technology for deeper insights and diversity in genetic testing. Comprehensive 
      reference databases and high-resolution HLA typing across diverse populations are 
      essential. Reintegrating HLA alleles into forensic identification complements 
      existing markers, creating a potent method for future forensic analysis.
FAU - Kouniaki, Diamanto I
AU  - Kouniaki DI
AUID- ORCID: 0009-0008-9745-3415
AD  - Immunology and Histocompatibility Department, Evangelismos General Hospital, 
      10676 Athens, Greece.
FAU - Fotopoulos, Konstantinos V
AU  - Fotopoulos KV
AD  - School of Electrical and Computer Engineering, National Technical University of 
      Athens (ECE-NTUA), 15772 Zografou, Greece.
FAU - Tarassi, Katerina
AU  - Tarassi K
AD  - Immunology and Histocompatibility Department, Evangelismos General Hospital, 
      10676 Athens, Greece.
FAU - Tsirogianni, Alexandra
AU  - Tsirogianni A
AUID- ORCID: 0000-0003-2531-4113
AD  - Immunology and Histocompatibility Department, Evangelismos General Hospital, 
      10676 Athens, Greece.
LA  - eng
PT  - Journal Article
DEP - 20240124
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Humans
MH  - Alleles
MH  - *DNA Fingerprinting/methods
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - HLA Antigens/genetics
MH  - *Polymorphism, Genetic
MH  - Reproducibility of Results
MH  - *Paternity
PMC - PMC10888046
OTO - NOTNLM
OT  - HLA alleles
OT  - aSTR mutation
OT  - forensic medicine
OT  - massively parallel sequencing technology
OT  - parentage testing
COIS- The authors declare no conflicts of interest.
EDAT- 2024/02/24 11:44
MHDA- 2024/02/26 06:42
PMCR- 2024/01/24
CRDT- 2024/02/24 01:05
PHST- 2023/12/21 00:00 [received]
PHST- 2024/01/13 00:00 [revised]
PHST- 2024/01/20 00:00 [accepted]
PHST- 2024/02/26 06:42 [medline]
PHST- 2024/02/24 11:44 [pubmed]
PHST- 2024/02/24 01:05 [entrez]
PHST- 2024/01/24 00:00 [pmc-release]
AID - genes15020150 [pii]
AID - genes-15-00150 [pii]
AID - 10.3390/genes15020150 [doi]
PST - epublish
SO  - Genes (Basel). 2024 Jan 24;15(2):150. doi: 10.3390/genes15020150.