This study was undertaken to investigate a means of assigning Gm allotypes to Caucasians by RFLP analysis. A single immunoglobulin heavy-chain gamma-4 cDNA probe (HU gamma 4) was hybridized with genomic DNA digested separately with two restriction enzymes, TaqI and PvuII. Results showed excellent correlation (P less than .001) between serologically defined Gm allotypes G1m(1), G1m(2), G2m(23), and G1m;G3m (3;5,10) and RFLPs identified with the (HU gamma 4) probe. We conclude that it is now possible to define common Gm haplotypes in Caucasians by RFLP analysis. This method provides a useful adjunct to serological allotyping and indeed has several important advantages over traditional serology: it allows confident Gm assignment and the definition of homozygous and heterozygous Gm arrangements, is highly reproducible, and is readily executed in any molecular genetic laboratory.
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Genes (Basel)
December 2024
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, CS, Italy.
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January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFVet Med Sci
March 2025
Faculty of Veterinary Medicine, Erciyes University, Kayseri, Turkey.
Understanding the genetic factors that influence meat yield is crucial due to the economic importance of average daily live weight gain (ADWG) in livestock. This study investigates the relationship between the c.*188G>A SNP in the 3'-UTR region of the akirin 2 gene and growth traits in Zavot cattle, focusing on the gene's role in muscle development.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Internal Medicine /Allergy and Clinical Immunology, Ain- Shams University, Cairo, Egypt.
Female obesity is a worldwide health issue linked to chronic metabolic low-grade inflammation (metaflammation) causing multiple obesity-related co-morbid conditions. We aimed to assess the serum levels of wingless integration site family member 5 A (Wnt5a), leptin, and tumor necrosis factor-alpha (TNF-α) as markers of obesity-associated metaflammation and investigate the association with toll-like receptors2 (TLR2) gene (Arg753Gln) single nucleotide polymorphism (SNP) among Egyptian females. The study included 60 females with obesity and 30 matched controls.
View Article and Find Full Text PDFOcul Immunol Inflamm
January 2025
Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
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