Prediction of Y haplogroup by polymerase chain reaction-reverse blot hybridization assay

Genes Genomics. 2019 Mar;41(3):297-304. doi: 10.1007/s13258-018-0761-6. Epub 2018 Nov 19.

Abstract

Background: The analysis of Y-SNPs from crime scene samples is helpful for investigators in narrowing down suspects by predicting biogeographical ancestry.

Objective: In this study, a PCR-reverse blot hybridization assay (REBA) for predicting Y-chromosome haplogroups was employed to determine the major haplogroups worldwide, including AB, DE, C, C3, F, K, NO, O, O2, and O3 and evaluated.

Methods: The REBA detects nine biallelic Y chromosome markers (M9, M89, M122, M145, M175, M214, M217, P31, and RPS4Y711) simultaneously using multiple probes.

Results: The REBA for Y-single nucleotide polymorphisms (SNP) genotyping was performed using 40 DNA samples from Asians-14 Koreans, 10 Indonesians, six Chineses, six Thais, and four Mongolians. 40 Asian samples were identified as haplogroup O2 (40%), O3 (32.5%), C3 (17.5%), O (7.5%) and K (2.5%). These cases were confirmed by DNA sequence analysis (κ = 1.00; P < 0.001).

Conclusion: PCR-REBA is a rapid and reliable method that complements other SNP detection methods. Therefore, implementing REBA for Y-SNP testing may be a useful tool in predicting Y-chromosome haplogroups.

Keywords: Crime scene; Haplogroup; REBA; Y chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Chromosomes, Human, Y / genetics*
  • Forensic Genetics / methods*
  • Forensic Genetics / standards
  • Haplotypes*
  • Humans
  • Male
  • Polymerase Chain Reaction / methods
  • Polymerase Chain Reaction / standards
  • Polymorphism, Single Nucleotide*
  • Reproducibility of Results