Introduction of an single nucleodite polymorphism‐based “Major Y‐chromosome haplogroup typing kit” suitable for predicting the geographical origin of male lineages

2005/11/16 by Marı́a Brión, Juan J. Sánchez, Kinga Balogh +9 · 7 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Forensic and Genetic Research #Genetic diversity and population structure #Molecular Biology Techniques and Applications #Haplogroup #Genetics #Single-nucleotide polymorphism #Biology #Genotyping #Typing #Y chromosome #SNP genotyping #Population #Haplotype #Allele #Evolutionary biology #Genotype #Gene #Medicine

paper · doi:10.1002/elps.200500293

openalex publication_date 2005/11/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/02

Abstract

The European Consortium "High-throughput analysis of single nucleotide polymorphisms for the forensic identification of persons--SNPforID", has performed a selection of candidate Y-chromosome single nucleotide polymorphisms (SNPs) for making inferences on the geographic origin of an unknown sample. From more than 200 SNPs compiled in the phylogenetic tree published by the Y-Chromosome Consortium, and looking at the population studies previously published, a package of 29 SNPs has been selected for the identification of major population haplogroups. A "Major Y-chromosome haplogroup typing kit" has been developed, which allows the multiplex amplification of all 29 SNPs in a single reaction. Allele genotyping was performed with a single base extension reaction (minisequencing) detected by CE. The validation of the multiplex was performed in a total of 1126 unrelated males distributed among 12 worldwide populations. The approach takes advantage of the specific geographic distribution of the Y-chromosome haplogroups and demonstrates the utility of binary polymorphisms to infer the origin of a male lineage.

Citations

• A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups
• Y chromosome sequence variation and the history of human populations
• Holmespun: An Intimate Portrait of an Amish and Mennonite Community, Conceptual Art and the Politics of Publicity
• A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia
• A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa
• Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes
• Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe
• The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations
• Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language
• Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area
• The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations
• High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males
• Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes
• Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa
• The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective

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• Portuguese crypto-Jews: the genetic heritage of a complex history
• Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
• Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers
• Haplogroup T-M184 [wikipedia]