The frequency of functionally important mutations and alleles of the gene coding for CYP2D6 shows wide ethnic variations. The present study aimed to determine the most common mutated allele CYP2D6*4 gene in a Turkish population of 100 unrelated subjects, by using real-time PCR with fluorescent probe. CYP2D6*4 allele was not detected in 62 subjects (62%). Among the remaining 38 subjects (38%), 4 (4%) were carriers of two *4 alleles, being homozygous for CYP2D6 and genotyped as CYP2D6*4/*4. 34 subjects (34%) were carriers of one *4 allele, being heterozygous for CYP2D6*4. The frequency of allele *4 was 0.21. These data indicate that 4% of the Turkish individuals living in the city of Bursa are carriers of two nonfunctional mutated alleles *4, being homozygous for CYP2D6*4. It is clinically important to be able to identify those individuals who are likely to have altered pharmacokinetics for CYP2D6 substrates in order to avoid adverse drug reactions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000100959 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
JCO Glob Oncol
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.
View Article and Find Full Text PDFMolecular mechanisms underlying allosteric behavior of Escherichia coli DgoR, a GntR/FadR family transcriptional regulator.
Nucleic Acids Res
January 2025
Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Mohali, Sector 81, Knowledge City, SAS Nagar, Mohali 140306, Punjab, India.
GntR/FadR family featuring an N-terminal winged helix-turn-helix DNA-binding domain and a C-terminal α-helical effector-binding and oligomerization domain constitutes one of the largest families of transcriptional regulators. Several GntR/FadR regulators govern the metabolism of sugar acids, carbon sources implicated in bacterial-host interactions. Although effectors are known for a few sugar acid regulators, the unavailability of relevant structures has left their allosteric mechanism unexplored.
View Article and Find Full Text PDFThe Association of Mitochondrial tRNA G5783A Mutation with Major Depressive Disorder in Two Han Chinese Families.
Neuropsychiatr Dis Treat
January 2025
Department of Psychiatry, Suzhou Guangji Hospital, Suzhou, People's Republic of China.
Objective: In this study, we examined the genetic, medical, and molecular traits of two Han Chinese families with the tRNA G5783A mutation to investigate the relationship between mitochondrial DNA (mtDNA) mutations and major depressive disorder (MDD).
Methods: Clinical data and comprehensive mitochondrial genomes were collected from the two families. Variants were assessed for evolutionary conservation, allelic frequencies, and their structural and functional impacts.
CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds.
Mol Oncol
January 2025
Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Forkhead box L2 (FOXL2) encodes a transcription factor essential for sex determination, and ovary development and maintenance. Mutations in this gene are implicated in syndromes involving premature ovarian failure and granulosa cell tumors (GCTs). This rare cancer accounts for less than 5% of diagnosed ovarian cancers and is causally associated with the FOXL2 c.
View Article and Find Full Text PDFDirect Measurement of the Mutation Rate and Its Evolutionary Consequences in a Critically Endangered Mollusk.
Mol Biol Evol
January 2025
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, CA 95060, USA.
The rate at which mutations arise is a fundamental parameter of biology. Despite progress in measuring germline mutation rates across diverse taxa, such estimates are missing for much of Earth's biodiversity. Here, we present the first estimate of a germline mutation rate from the phylum Mollusca.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!