title: [High frequency of ancestral allele of the TJP1 polymorphism rs2291166 in Mexican population, conformational effect and applications in surgery and medicine].
abstract: BACKGROUND
  TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change.
  
  
  METHODS
  A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta.
  
  
  RESULTS
  The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change.
  
  
  CONCLUSIONS
  The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population.
authors.affiliation: Universidad de la Sierra Sur, Instituto de Investigaciones sobre la Salud Pública, Sistema de Universidades Estatales de Oaxaca (SUNEO), Miahuatlán de Porfirio Díaz, Oaxaca, México.
authors.forename: Sergio Alberto
authors.initials: SA
authors.lastname: Ramirez-Garcia
authors.affiliation: Programa de Doctorado en Genética Humana, Benemérita Universidad de Guadalajara, México.
authors.forename: Luis Javier
authors.initials: LJ
authors.lastname: Flores-Alvarado
authors.affiliation: Laboratorio de Patología Clínica, Hospital Regional Valentín Gómez Farías, Instituto de Seguridad y Servicios Sociales de los trabajadores del Estado, Guadalajara, Jalisco, México.
authors.forename: Luz Rosalba
authors.initials: LR
authors.lastname: Topete-González
authors.affiliation: Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Benemérita Universidad de Guadalajara, Guadalajara, Jalisco, México.
authors.forename: Claudia
authors.initials: C
authors.lastname: Charles-Niño
authors.affiliation: Laboratorio de Variación Genética y Enfermedad del Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud (CUCS), Benemérita Universidad de Guadalajara, Jalisco, México.
authors.forename: Manuel
authors.initials: M
authors.lastname: Mazariegos-Rubi
authors.affiliation: Laboratorio de Variación Genética y Enfermedad del Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud (CUCS), Benemérita Universidad de Guadalajara, Jalisco, México. Electronic address: sergio7genetica@Hotmail.com.
authors.forename: Nory Omayra
authors.initials: NO
authors.lastname: Dávalos-Rodríguez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D003198:Computer Simulation; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics; D007198:Indians, North American / Q000235:genetics; D008297:Male; D008393:Marriage; D008800:Mexico; D008875:Middle Aged; D008957:Models, Genetic; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010195:Pancreatitis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011487:Protein Conformation; D055550:Protein Stability; D013030:Spain / Q000208:ethnology; D055815:Young Adult; D062826:Zonula Occludens-1 Protein / Q000737:chemistry / Q000235:genetics*
chemical_list: C569042:TJP1 protein, human; D062826:Zonula Occludens-1 Protein
keywords: Cell polarity; Cell traffic; Gen TJP1; Polaridad celular; Tight junctions; Tráfico celular; Uniones estrechas