Association between Genetic Polymorphism of , and and Drug Responsiveness in Vietnamese Epileptic Children.

Drug resistant epilepsy (DRE) is a major hurdle in epilepsy, which hinders clinical care, patients' management and treatment outcomes. DRE may partially result from genetic variants that alter proteins responsible for drug targets and drug transporters in the brain. We aimed to examine the relationship between , and polymorphism and drug response in epilepsy children in Vietnam.

Copy number variations of cytochrome genes in Kinh Vietnamese.

Background: The cytochrome P450 () family is well known as a major group of drug metabolizing enzymes. The polymorphism of genes is the main factor having an impact on the interindividual difference in drug response, including drug efficacy and drug safety. The single nucleotide polymorphism (SNPs) of Vietnamese Kinh has been widely studied, but information about the copy number variations (CNVs) of other genes is still unknown.

Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2 Genes in 235 People Living in Thai Nguyen Province of Vietnam.

Objective: ADH1B, ADH1C and ALDH2 genes are mainly responsible for alcohol metabolism in the body. Several single nucleotide polymorphisms (SNPs) of these genes have been reported to be associated with alcohol dependence and are considered risk factors for various human diseases. This study aims to identify the prevalence of three SNPs of ADH1B (rs1229984), ADH1C (rs698) and ALDH2 (rs671) in 235 unrelated individuals living in Thai Nguyen province, the northeast region of Vietnam.

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by p.G465D mutation: a first clinical characterization and two-year follow-up.

Objectives: Familial partial lipodystrophy type 2 is the most well-known subtype of lipodystrophy. We describe for the first time the phenotype of a case with lipodystrophy, who carried heterozygous mutation c.G1394A (p.

Novel mutations of the , , and genes cause abnormal development of the iris in Vietnamese individuals.

Purpose: Congenital iris abnormality is a feature of several genetic conditions, such as aniridia syndrome and anterior segment degeneration (ASD) disorders. Aniridia syndrome is caused by mutations in the gene or its regulatory elements in the locus 11p13 or deletions of contiguous genes, while ASDs are the result of mutations in various genes, such as , , , and . This study aims to identify pathogenic mutations in Vietnamese individuals with congenital anomalies of the iris.

genetic polymorphism in the Vietnamese population.

Genetic polymorphism of has been shown to affect enzyme activity and thereby contribute to inter-individual variability in drug metabolism and response. The complete genetic variation of in Vietnam still remains obscure even though data of common alleles in Vietnamese Kinh have been reported. To establish the extent of polymorphism in Vietnamese.

Single nucleotide and structural variants of CYP2D6 gene in Kinh Vietnamese population.

CYP2D6 genetic variations could result in alteration of CYP2D6 enzyme activity, leading to dissimilarity among individuals in regard of drug metabolism.This study aims to detect all genetic variants, allele, and genotype frequencies of CYP2D6 gene in 136 unrelated healthy Kinh Vietnamese volunteers. All single nucleotide variants (SNVs) and structural variations (SVs) of CYP2D6 gene were identified by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay.

Polymorphic analysis of CYP2C9 gene in Vietnamese population.

Genetic variations in CYP2C9 are associated to inter-individual variability of drugs metabolism and response. The only report has been done previously mainly focusing on the common variant alleles of CYP2C9 in Vietnamese Kinh subjects. However, little is known about the complete spectrum of this gene polymorphism in different ethnic groups of Vietnam.

Mutational screening of germline gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Purpose: Retinoblastoma (Rb) is a rare and unique eye cancer that usually develops in the retinas of children less than 5 years old due to mutations in the gene. About 40% of affected individuals have the heritable form making genetics testing of the gene important for disease management. This study aims to identify germline mutations in in a cohort of patients with Rb from northern Vietnam.