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http://dx.doi.org/10.1002/ajmg.1320520323 | DOI Listing |
Curr Res Parasitol Vector Borne Dis
January 2025
Western University of Health Sciences, 200 Mullins Dr, Lebanon, OR, 97355, USA.
snails are intermediate hosts for schistosome parasites, which cause morbidity and mortality in humans worldwide. We aimed to determine the mating system of , a hermaphroditic vector of schistosomiasis in the African Great Lakes, with the goal of informing the design of genetic studies such as linkage mapping to improve genome assembly and genetic association studies to identify snail resistance genes. To determine the relative rates of outcrossing selfing, we assayed the progeny of experimental crosses of snails in the laboratory using a PCR and restriction enzyme digest to determine snail genotype and parentage.
View Article and Find Full Text PDFBackground: The limited efficacy of the two recently approved malaria vaccines, RTS,S/AS01 and R21/Matrix- M™, highlights the need for alternative vaccine candidate genes. Plasmodium falciparum Reticulocyte Binding Protein Homologue 5 (Pfrh5) is a promising malaria vaccine candidate, given its limited polymorphism, its essential role in parasite survival, a lack of immune selection pressure and higher efficacy against multiple parasites strains. This study evaluated the genetic diversity of Pfrh5 gene among parasites from regions with varying malaria transmission intensities in Mainland Tanzania, to generate baseline data for this potential malaria vaccine candidate.
View Article and Find Full Text PDFbioRxiv
January 2025
Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA.
The Arabian Peninsula is considered the initial site of historic human migration out of Africa. The modern-day indigenous Arabians are believed to be the descendants who remained from the ancient split of the migrants into Eurasia. Here, we investigated how the population history and cultural practices such as endogamy have shaped the genetic variation of the Saudi Arabians.
View Article and Find Full Text PDFSci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
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