Identification of a novel Y-SNP in the USP9Y gene and its impact on genotyping alleles of the M46 locus

Y-chromosomal SNP markers are becoming increasingly more popular among forensic geneticists, but since they constitute variants specific to the ethnic origin, detailed population studies are required. Research into frequency of haplogroup N-M46 in the Belarusian population detected a mutated allele...

Full description

Saved in:
Bibliographic Details
Published inArchiwum medycyny sądowej i krjminologii Vol. 62; no. 3; pp. 165 - 170
Main Authors Rebała, Krzysztof, Tsybovsky, Iosif S, Mikulich, Alexei I, Szczerkowska, Zofia
Format Journal Article
LanguagePolish
Published Poland 01.07.2012
Subjects
Adult
Chromosomes, Human, Y - genetics
Databases, Genetic
DNA Fingerprinting - methods
European Continental Ancestry Group - genetics
Forensic Genetics - methods
Gene Frequency
Genes, Y-Linked
Genetics, Population - statistics & numerical data
Haplotypes - genetics
Humans
Male
Microsatellite Repeats
Minor Histocompatibility Antigens
Republic of Belarus
Ubiquitin Thiolesterase - genetics
Republic of Belarus
Online AccessGet full text

Cover

More Information
Summary:Y-chromosomal SNP markers are becoming increasingly more popular among forensic geneticists, but since they constitute variants specific to the ethnic origin, detailed population studies are required. Research into frequency of haplogroup N-M46 in the Belarusian population detected a mutated allele in 22 males, including one with a very distinct Y-STR haplotype. Sequencing of the M46 locus of this individual revealed the presence of a novel Y-SNP nearby the M46 locus, which was responsible for the erroneous assignment of the Y chromosome to the haplogroup N-M46. An impact of the identified polymorphism on discrimination of alleles of the M46 locus with various techniques was discussed, and solutions ensuring correctness of the genotyping results were proposed.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0324-8267