A5082636877- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genetic factors in colorectal cancer
- Identification and Quantification in Food
- Agricultural and Food Production Studies
- Food Supply Chain Traceability
- Metabolism and Genetic Disorders
- Prostate Cancer Treatment and Research
- RNA modifications and cancer
- Sperm and Testicular Function
- Hormonal and reproductive studies
- BRCA gene mutations in cancer
- Congenital Ear and Nasal Anomalies
- Genetic Mapping and Diversity in Plants and Animals
- Nuclear Structure and Function
- Polysaccharides Composition and Applications
- Cystic Fibrosis Research Advances
- Lipoproteins and Cardiovascular Health
- Cancer Genomics and Diagnostics
- Skin and Cellular Biology Research
- Animal Disease Management and Epidemiology
University of Zulia
2006-2020
Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions ancestral contributions between within among ethnic groups. We developed a panel 446 ancestry informative markers (AIMs) optimized to estimate populations Latin America. used genome-wide data from 953 diverse African, American select AIMs for each three main continental that form basis modern populations....
Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure the prevailing regional pattern geography language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined relationship Y-chromosomal genotype on one hand, male geographic origin linguistic affiliation other, largest study American natives to date terms sampled individuals populations. A total 1,011 individuals, representing...
It is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective this study was to determine influence origin X-chromosome phenotypic variability, response rhGH and biochemical profile TS patients.This a cross-sectional multicenter correlational carried out over three years in six Latin-American university hospitals. Unrelated 45,X patients (n = 93; 18.3 ± 8.5 )) were evaluated. A subgroup 34) prospectively treated with two years. DNA...
Differences in genes encoding enzymes involved the biotransformation of a large number compounds, such as CYP2D6, are related to inter-individual and inter-ethnic variability metabolism many drugs, which have also been linked susceptibility cancer other health outcomes. Therefore, populations likely benefit from inclusion pharmacogenetic research studies.To determine frequency functionally important allele variants CYP2D6 gene sample an Urban/admixed five Amerindian Venezuelan...
A 9-year-old patient with the classical clinical picture of Hutchinson-Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that interval 1q23 may play roll in etiology HGP. perturbation glycosylation connective tissue has been demonstrated patients this condition. This abnormality be due to defect UDP-galactose:beta-N-acetylglucosamina-beta-1,4-galactosyltransferase 3 (B4GALT3) gene mapped 1q21-23. cytogenetical analyses B4GALT3...
We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, and Venezuela. Mutation screening was performed by polymerase chain reaction (PCR) a reverse dot blot detection kit that enables determination of 16 the most common CF mutations worldwide. Mutations were detected 47.9% screened alleles. The prevalent allele DeltaF508 (39. 6%). remaining non-DeltaF508 detectable represented 8.3% Among them, G542X, N1303K, 3849+10kb C>T common. Although frequency...
Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by increase in low-density lipoprotein (LDL) cholesterol levels and premature coronary artery disease. In Venezuela, the molecular basis of FH has not been characterized, thus, aim this study was to investigate mutations exon 4 LDLR (LDL-receptor) gene 225 Venezuelan mixed race individuals (65 hypercholesterolemic 160 normolipidemic). The screened polymerase chain reaction-single strand conformational...
Prostate cancer is the third cause of death in men Western hemisphere and second Zulian from Venezuela.To determine whether polymorphisms 308 238 tumor necrosis factor alpha (TNF-α) gene are associated with prostate cancer.The DNA that was extracted peripheral blood 40 patients prostatic specific antigen controls amplified by PCR plus digestion enzymes NcoI MspI.In patients, genotypes TNF-α-238 polymorphism were observed 90% GG 10% GA; controls, 97.5% 2.5% GA, odds ratio (OR) = 4,000 for GA....
Mixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, gonadal, and phenotypic abnormalities, characterized by the presence testis on one side streak or an absent gonad other, persistence müllerian duct structures and/or wolffian derivatives, variable degree genital ambiguity. Here, we describe patient with virilized external genitalia features Turner syndrome, whose blood karyotype was 45,X/46,X,i(Xq). The unilateral dysgenetic confirmed histopathology. Using...
Objective: To identify genetic risk factors and frequency to describe congenital defects of the fetus. Methods: The research was conducted at Genetic Research Institute Faculty Medicine. University Zulia. Maracaibo. We studied patients who attend prenatal clinic. According Identified, it indicated different diagnostic procedures: fetal echography, echocardiography, triple maternal serum marker, amniocentesis for karyotype molecular analysis. Results: included 568 patients. 79.05% total...