A pentaplex PCR assay for the genetic analysis of ChrX short tandem repeat (STR) loci

“…This includes the Mentype ® Argus X-8 PCR amplification kit [2,3], featuring markers DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423, and its extension to the Investigator ® Argus X-12 PCR amplification kit (Qiagen, Hilden, Germany), which additionally includes DXS10148, DXS10079, DXS10103 and DXS10146 [4][5][6][7][8]. Noncommercial X STR marker sets have been developed by individual laboratories [9][10][11][12][13][14][15][16][17][18][19][20][21]. One of these comprises 15 X STR markers [22] including the four markers (DXS8378, DXS7132, HPRTB and DXS7423) that were present in the only commercially available kit at the time, namely the Mentype® Argus X-UL kit [3], and that have been retained in subsequent versions of the kit, i.e.…”

Section: Introductionmentioning

confidence: 99%

Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization

Diegoli¹,

Rohde²,

Borowski³

et al. 2016

Forensic Science International: Genetics

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Typing of X chromosomal short tandem repeat (X STR) markers has become a standard element of human forensic genetic analysis. Joint consideration of many X STR markers at a time increases their discriminatory power but, owing to physical linkage, requires inter-marker recombination rates to be accurately known. We estimated the recombination rates between 15 well established X STR markers using genotype data from 158 families (1041 individuals) and following a previously proposed likelihood-based approach that allows for single-step mutations. To meet the computational requirements of this family-based type of analysis, we modified a previous implementation so as to allow multi-core parallelization on a high-performance computing system. While we obtained recombination rate estimates larger than zero for all but one pair of adjacent markers within the four previously proposed linkage groups, none of the three X STR pairs defining the junctions of these groups yielded a recombination rate estimate of 0.50. Corroborating previous studies, our results therefore argue against a simple model of independent X chromosomal linkage groups. Moreover, the refined recombination fraction estimates obtained in our study will facilitate the appropriate joint consideration of all 15 investigated markers in forensic analysis.

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