title: [Identification of rare genetic variants at DXS10074, DXS10079, DXS10146 and DXS10148 loci of investigator argus X-12 multiplex in the south Polish population].
abstract: In recent years, the analysis of X-linked short tandem repeats (X-STR), beside autosomal and Y-chromosomal STR loci, has become widely used in forensic genetic investigations. The usefulness of X-STRs markers in forensic medicine is confirmed by their high biostatistical parameters obtained for different populations. Such population studies performed on particular ethnic groups allow for demonstrating the presence of, rare genetic variants that are not included in the allelic ladders of commercially available multiplex kits. The presence of these alleles can increase the power of evidence. On the other hand, the off-ladder alleles can be sometimes difficult to interpret. In this paper, X-STRs analysis was performed in a population sample of 200 unrelated females and males from the Southern Poland using Investigator Argus X-12 Kit. Seven rare off-ladder alleles were encountered: DXS10074*15.2, DXS10079*24, DXS10146*38.2, DXS10146*47.2, DXS10148*17, DXS10148*21.1 and DXS10148*22 that were not previously reported in the Polish population. Additionally, genetic transmission of these genetic variants was ascertained.
authors.affiliation: Z Katedry i Zakładu Medycyny Sadowej UJ CM.
authors.forename: Marta
authors.initials: M
authors.lastname: Czarnogórska
authors.forename: Marek
authors.initials: M
authors.lastname: Sanak
authors.forename: Danuta
authors.initials: D
authors.lastname: Piniewska
authors.forename: Nina
authors.initials: N
authors.lastname: Polańska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Stawowiak
authors.forename: Barbara
authors.initials: B
authors.lastname: Opolska-Bogusz
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D016172:DNA Fingerprinting / Q000379:methods*; D005260:Female; D005554:Forensic Medicine / Q000379:methods; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences; D055815:Young Adult