Publications by authors named "A Pakstis"

Background: Cytochrome P450 is a superfamily of genes generating hemoproteins that metabolize foreign chemicals as well as endogenous compounds, such as steroids. The human CYP2C genes (CYP2C8, CYP2C9, CYP2C18, CYP2C19) cluster on chromosome 10 and metabolize many clinically useful drugs. CYP2C19 and CYP2C9 have been the most studied while CYP2C8 has been studied less frequently.

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Article Synopsis
  • The study explores the genetic structure of eight North African populations, specifically from Tunisia and Libya, using 30 autosomal SNPs to understand their demographic history and genetic diversity.
  • Analysis of data from 403 individuals indicates that North Africans have a genetic composition that is intermediate between European and Asian populations, influenced by migration patterns and prehistoric genetic flow.
  • Findings reveal that genetic factors, along with demographic, natural, and cultural influences, have contributed to the diverse genetic landscape of North Africa, highlighting its complex history.
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Article Synopsis
  • - The study explores the genetic diversity of two specific SNPs (rs713598 and rs1726866) related to bitter taste perception in northern Africa, focusing on a sample of 375 subjects from Tunisia and Libya.
  • - The research reveals that a unique haplotype (CA) associated with a specific amino acid (PV) is much rarer globally but is notably more common (6%-15%) in northern Africa, where it appears alongside other prevalent haplotypes.
  • - The authors suggest that the CA haplotype could serve as a useful biogeographic marker in forensic studies due to its distinctive frequency patterns in this relatively understudied region.
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DNA polymorphic markers and self-defined ethnicity groupings are used to group individuals with shared ancient geographic ancestry. Here we studied whether ancestral relationships between individuals could be identified from metabolic screening data reported by the California newborn screening (NBS) program. NBS data includes 41 blood metabolites measured by tandem mass spectrometry from singleton babies in 17 parent-reported ethnicity groupings.

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In recent years, the number of publications on microhaplotypes has averaged more than a dozen papers annually. Many have contributed to a significant increase in the number of highly polymorphic microhaplotype loci. This increase allows microhaplotypes to be very informative in four main areas of forensic uses of DNA: individualization, ancestry inference, kinship analysis, and mixture deconvolution.

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