In a small village founded by few ancestors, three mutations in GJB2, the gene for connexin 26, are responsible for the high prevalence of deafness. A total of 15% of healthy individuals from a random sample were carriers of either 35Gdel (7.8%), W77R (2.4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed.
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http://dx.doi.org/10.1089/gte.2006.10.40 | DOI Listing |
Front Parasitol
April 2024
Centre for Malaria Elimination, Institute of Tropical Medicine, Mount Kenya University, Thika, Kenya.
The Circumsporozoite Protein (PfCSP) has been used in developing the RTS,S, and R21 malaria vaccines. However, genetic polymorphisms within compromise the effectiveness of the vaccine. Thus, it is essential to continuously assess the genetic diversity of , especially when deploying it across different geographical regions.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine Department, Hamad Medical Corporation, Doha, QAT.
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder involving varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and bones. It is often linked to gene mutations. It affects the lymphatic, capillary, and venous systems.
View Article and Find Full Text PDFJ Gastrointest Oncol
December 2024
Department of Gastroenterological Surgery and Hernia Center, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Cellular senescence is considered a new marker of cancer. It has been suggested that long non-coding RNA (lncRNA) can be used to predict the prognosis of cancers. However, it remains to be seen whether the lncRNAs associated with cellular senescence can be used to predict the prognosis of gastric cancer (GC).
View Article and Find Full Text PDFJ Agric Food Chem
January 2025
State Key Laboratory of Rice Biology and Breeding, Zhejiang Key Laboratory of Biology and Ecological Regulation of Crop Pathogens and Insects, Institute of Biotechnology, Zhejiang University, Hangzhou 310058, China.
Fusarium crown rot (FCR) poses a major threat to wheat production in the Huanghuai wheat region of China. This study aims to enhance understanding of pathogen populations causing FCR, focusing on their pathogenicity, trichothecene genotypes, and fungicide resistance. During the 2022-2023 growing seasons, we collected 1820 fungal isolates from 233 locations in this region.
View Article and Find Full Text PDFBreast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
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