engleski

Aberrant X-chromosome STR profiles detected in the Croatian sample pool

Analysis of X-chromosome short tandem repeat (STR) markers has proven its forensic value as both a supporting method to traditional autosomal STR profiling, and a method of choice in solving a number of complex kinship cases. As the first step towards implementation of X- STR typing into routine forensic practice of the Croatian Forensic Science Centre “Ivan Vučetić”, we performed a population study using Investigator® Argus X-12 Kit. Approximately 1000 of both male and female blood samples collected at 1:1 sex ratio during routine forensic work were analyzed by capillary electrophoresis. All samples containing allele dropouts and exhibiting uncommon profiles were re-extracted and re-analyzed for confirmation. Although aberrant profiles cannot be included in calculation of the population forensic parameters, awareness of their potential to add complexity to actual forensic investigation is important. Here we present 7 profiles exhibiting biallelic and triallelic patterns in males and females respectively at the DXS10079 locus, and one triallelic pattern found in one female profile at DXS1034. In addition, we show 3 female profiles indicating XXX condition (Triple X syndrome) and 1 male profile indicating XXY condition (Klinefelter syndrome). Our findings identify DXS10079 locus as a mutational hotspot in Croatian population. They also provide improved estimations of X chromosome aneuploidies in general population directly from genetic data, given that affected persons often stay undiagnosed due to mild symptoms in certain cases.

X-STR ; Investigator® Argus X-12 ; Croatian population ; DXS10079 ; Forensics

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