A5073718612- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Pancreatic function and diabetes
- Forensic and Genetic Research
- Neonatal Health and Biochemistry
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Diabetes and associated disorders
- Genetic Associations and Epidemiology
- Blood properties and coagulation
- Hemoglobin structure and function
- Birth, Development, and Health
- Pregnancy and preeclampsia studies
- Genomic variations and chromosomal abnormalities
- Bone health and osteoporosis research
- Ion Transport and Channel Regulation
- Hedgehog Signaling Pathway Studies
- Aging, Health, and Disability
- Genetic diversity and population structure
- Aldose Reductase and Taurine
- Glutathione Transferases and Polymorphisms
- Neonatal Respiratory Health Research
Mexican Social Security Institute
2010-2024
Universidad de Guadalajara
2006-2022
Secretaría de Salud de Jalisco
2004-2022
Health Sciences North
2012
London Health Sciences Centre
2012
University of Sudbury
2012
Universidad de Occidente
2008
Fundacion Favaloro Hospital Universitario
2007
Universidad Nacional Autónoma de México
1983
We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI (rs731236), with bone mineral density (BMD) in postmenopausal Mexican-Mestizo women.Three hundred twenty women participated, ©FUNPEC-RP www.funpecrp.com.
Abstract Mutations in three genes ( APP, PSEN1, and PSEN2 ) are the main cause of autosomal dominant early‐onset Alzheimer's disease (AD‐EOAD). In A431E (c.1292C>A, rs63750083) mutation is suspected to have exerted a founder effect State Jalisco, Mexico. Guadalajara, Mexico, this was found 46 index cases evaluated for AD‐EOAD. our genealogical analysis, 301 affected relatives carriers were identified, 195 whom already deceased at time interview. Moreover, 560 descendants had 50% risk...
Abstract Objective: To analyze the frequency of haplotypes β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended Children's Hospital Panama. Methods: Five polymorphic sites were analyzed by polymerase chain reaction (PCR) followed restriction digestion and agarose gel electrophoresis a total 100 patients, including 95 homozygous for HbS (sickle anemia) 5 compound heterozygotes HbC genes (HbSC disease). Results: The Bantu haplotype was predominant with...
AbstractTwenty-five individuals were studied from four unrelated Mexican Mestizo families with Hb D-Los Angeles. We observed five compound heterozygotes: for S and D, one D β-thalassemia (β0 39 nonsense mutation); 16 S, seven β-thalassemia, while the remaining normal. The S/Hb patients had severe hemolytic anemia, in D/β-thalassemia patient, anemia was similar to that of a heterozygote; therefore, is clinically harmful when it associated S. βS chromosomes Benin haplotype two Bantu family, βD...
The concurrence of a short arm isochromosome and translocation the entire long same chromosome to telomere another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence situ hybrization (FISH) better characterize one these rearrangements which 12q was translocated 8pter, whereas 12p converted into an isochromosome. An alphoid centromere-12 repeat gave strong signal on i( 2p) weak but distinct at breakpoint junction...
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase activity that plays an important role in multiple cellular functions.EGFR overexpression has been observed several types of tumors and it significantly associated disease stage, survival, prognosis, progression cancer.The polymorphisms -216G>T, -191C>A, (CA) n first intervening sequence ©FUNPEC-RP www.funpecrp.com.brGenetics Molecular Research 14 (1): 1802-1807 (2015) (IVS1) have related to EGFR...
We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis DNA sequencing. No changes detected one of patients. Two well-known polymorphisms, Memphis I Diego-a blood group, another one. In third, HS phenotype could be explained by novel 1885_1888dupCCGG mutation found heterozygosis. This frameshift is predicted to result a truncated unstable protein lacking normal functions.
Beta thalassemia (β-thal) is a frequent monogenic disease, clinically and molecularly heterogeneous. This study described molecular laboratory findings for three Mexican patients with β-thal intermedia phenotype their relatives. Three families were studied presenting intermedia, ARMS-PCR Gap-PCR performed to screen common mutations, Sanger sequencing rare or new alleles, MLPA identifying deletions duplications. In all we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*)...
1. Bączyk G, Samborski W, Jaracz K. (2016). Evaluation of the quality life postmenopausal osteoporotic and osteopenic women with or without fractures Arch Med Sci. 12: 819-27. Google Scholar
Summary Introduction Alpha‐thalassemia (α‐thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α‐thal and beta‐thalassemia (β‐thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the identification of α‐ β‐thal alleles in 51 Mexican patients with microcytosis, hypochromia, normal or low levels HbA 2 . Methods Common deletional (‐α 3.7 , ‐α 4.2 ‐ SEA MED FIL THAI 20.5 ) α‐triplication were...
The haplotypes of 97 beta(A) independent chromosomes from a Mexican Huichol Native American group were analyzed. analysis also included 87 Mestizo population previously studied. Among Huichols, eight different 5' beta (5Hps) observed, with types 1(+ - -), 13(+ + +) and 2(- at frequencies 0.794, 0.093, 0.041, respectively. In Mestizos, 17 5Hps found, 1, 3(- +), 2, 5(- 9(- -) being the most common 0.391, 0.172, 0.092, 0.069, 0.046, 3' haplotype (3Hps) frequency distributions 0.443(+ 0.083(+...
Abstract: HLA‐DQB1, ‐DQA1, and ‐DRB1 genes were typed by polymerase chain reaction with sequence‐specific primer (PCR‐SSP) in 159 healthy volunteers from 32 families living Guadalajara, Mexico. Three‐locus genotype data all family members used to infer haplotypes 54 unrelated individuals of the sample, which estimate segregating haplotype frequencies linkage disequilibrium (LD) between loci computed. Genotype distributions concordant Hardy–Weinberg expectations (HWE) for three loci, allele...
Abstract Hemoglobin S is caused by a nucleotide change in HBB gene (HBB:c.20A>T, p.Glu6Val), presented diverse forms: simple carriers (HbSA), homozygotes (HbSS) also known as sickle cell anemia, and compound heterozygotes with other β-hemoglobinopathies. It worldwide distributed, Mexico, frequently observed the southern states Guerrero, Oaxaca Chiapas. Elevated fetal hemoglobin (HbF) associated mild phenotype; single-nucleotide variants (SNVs) modifier genes, such BCL11A, HBG2, HBBP1...
beta-Globin haplotypes have been used to investigate the origin and spread of beta-globin mutations such as Hb S [beta 6(A3)Glu-->Val, GAG>GTG], E 26(B8)Glu-->Lys, GAG>AAG], beta-thalassemia (beta-thal). Molecular analyses revealed presence 17 beta-thal in Mexican population; most frequent these are nonsense codon 39 (C>T), IVS-I-1 (G>A), IVS-I-110 -28 (A>C). To improve our knowledge about their origin, we analyzed 5' by restriction fragment length polymorphism. The mutation (n = 17) was...
We studied a fast-moving, abnormal hemoglobin (Hb) identified as Fannin-Lubbock-I [beta119(GH2)Gly-->Asp] in homozygous Mexican girl. To date, homozygosity for the Hb variant has not been reported. Her parents and five other relatives were heterozygotes. The 5' beta-globin haplotype analysis showed that mutation was associated with 2 [- + - +]for epsilon, (G)gamma, (A)gamma, 3 'psibeta-globin sites, also segregated TGTTC haplotype, which constructed polymorphic sites of gene [exon...