Extract: Single nucleotide polymorphisms (SNPs) often represent allelic variants of genes. The differences between individuals within a species are mainly due to SNPs. SNPs are commonly used as genetic markers for genetic diseases and other phenotypic traits. Currently, throughput and accuracy are limiting factors in the widespread use of SNPs in diagnostics. A large number of both individuals and SNPs often have to be screened when searching for correlation between specific alleles and phenotypic traits. SNP genotyping analysis of one sample at a time is extremely costly and time consuming. Pooling DNA samples prior to quantitative SNP allele frequency determination in affected and control populations is an attractive way to increase throughput and reduce costs. Individual genotyping is only done when there is a significant discrepancy in allele frequencies between the affected and control populations. Despite extensive efforts, the technology to accurately quantify SNPs in sample pools is still lacking.
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Theor Appl Genet
January 2025
Henan Sesame Research Center, Henan Academy of Agricultural Sciences, Zhengzhou, China.
Anthocyanins not only serve as critical pigments determining floral hues but also play essential roles in attracting insects for pollination, feeding animals and mitigating abiotic stress. However, the molecular mechanisms underlying the regulation of flower color in sesame has not yet been reported. In this study, an F population was constructed by crossing 'Ganzhi 9' (purple-flowered) with 'BS377' (white-flowered).
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February 2025
Histocompatibility and Immunogenetics Laboratory, St. Paul's Hospital, Saskatoon, Saskatchewan, Canada.
The novel allele HLA-C*01:282 has a single non-synonymous mutation compared to HLA- C*01:02:01:01 in codon 100 in Exon 3.
View Article and Find Full Text PDFNeurogastroenterol Motil
January 2025
Division of Gastroenterology, Hepatology and Nutrition, The Ohio State University, Columbus, Ohio, USA.
Background: Cyclic vomiting syndrome (CVS) is a disorder characterized by sudden, recurrent episodes of severe nausea and vomiting. The pathophysiology of CVS is not known but genetic factors that regulate emetic neurocircuitry have been proposed. The aim of this study was to investigate whether different variations in genes encoding serotonin receptors (HTRs) are associated with susceptibility to CVS and/or CVS symptoms.
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March 2025
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Yahaba, Japan.
The polygenic score (PGS) holds promise for motivating preventive behavioral changes. However, no clinically validated standardization methodology currently exists. Here, we demonstrate the efficacy of a "reference-based" approach for standardization.
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February 2025
Wildlife Research Center, Kyoto University, Kyoto, Kyoto Prefecture, Japan.
Domestic dogs exhibit significant diversity in both morphology and personality. Recent studies focusing on large-breed dogs reported the contribution of genetic factors to personality. However, the genetic influence in small-breed dogs remains unexplored.
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