RESUMO
This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus (QTL) for FG level in a genome-wide study from a Korean twin-family cohort (the Healthy Twin Study) using a combined linkage and family-based association analysis approach. We investigated 1,754 individuals, which included 432 families and 219 pairs of monozygotic twins. Regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2, were found to show evidence of linkage with FG level, and several markers in these regions were found to be significantly associated with FG level using family-based or general association tests. In particular, a single-nucleotide polymorphism (rs6138953) on the PTPRA gene in the 20p13 region (combined P = 1.8 x 10(-6)) was found to be associated with FG level, and the PRKCB1 gene (in 16p12.1) to be possibly associated with FG level. In conclusion, multiple regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2 are associated with FG level in our Korean twin-family cohort. The combined approach of genome-wide linkage and family-based association analysis is useful to identify novel or known genetic regions concerning FG level in a family cohort study.
Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Povo Asiático/genética , Glicemia/genética , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 20/genética , Estudos de Coortes , Família , Ligação Genética , Estudo de Associação Genômica Ampla , Genótipo , Polimorfismo de Nucleotídeo Único , Proteína Quinase C/genética , Locos de Características Quantitativas , Proteínas Tirosina Fosfatases Classe 4 Semelhantes a Receptores/genética , República da Coreia , Gêmeos Monozigóticos/genéticaRESUMO
Genetic alterations have been recognized as an important event in the carcinogenesis of gastric cancer (GC). We conducted high resolution bacterial artificial chromosome array-comparative genomic hybridization, to elucidate in more detail the genomic alterations, and to establish a pattern of DNA copy number changes with distinct clinical variables in GC. Our results showed some correlations between novel amplified or deleted regions and clinical status. Copy-number gains were frequently detected at 1p, 5p, 7q, 8q, 11p, 16p, 20p and 20q, and losses at 1p, 2q, 4q, 5q, 7q, 9p, 14q, and 18q. Losses at 4q23, 9p23, 14q31.1, or 18q21.1 as well as a gain at 20q12 were correlated with tumor-node-metastasis tumor stage. Losses at 9p23 or 14q31.1 were associated with lymph node status. Metastasis was determined to be related to losses at 4q23 or 4q28.2, as well as losses at 4q15.2, 4q21.21, 4q 28.2, or 14q31.1, with differentiation. One of the notable aspects of this study was that the losses at 4q or 14q could be employed in the evaluation of the metastatic status of GC. Our results should provide a potential resource for the molecular cytogenetic events in GC, and should also provide clues in the hunt for genes associated with GC.
Assuntos
Pessoa de Meia-Idade , Masculino , Humanos , Feminino , Idoso de 80 Anos ou mais , Idoso , Adulto , Neoplasias Gástricas/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Receptores da Tireotropina/genética , Hibridização de Ácido Nucleico/métodos , Estadiamento de Neoplasias , Fator de Transcrição MafB/genética , Metástase Linfática/genética , Genoma Humano/genética , Regulação Neoplásica da Expressão Gênica , Cromossomos Humanos Par 20/genética , Cromossomos Humanos Par 14/genética , Aberrações CromossômicasRESUMO
Descrevemos uma duplicaçäo do cromossomo 20 (20pter© 20q12), resultante de uma translocaçäo t(14;20)(q11;q13)mat, em uma menina com retardo do desenvolvimento neuropsicomotor e anomalias congênitas múltiplas. Trata-se da mais extensa duplicaçäo do cromossomo 20 presente em indivíduo nascido vivo até agora publicada.
Assuntos
Humanos , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Aberrações Cromossômicas , Cromossomos Humanos Par 20/genética , Translocação Genética , TrissomiaRESUMO
Se presentan dos casos de enfermedad de Creutzfeldt-Jakob (ECJ) ocurridos en un médico patólogo y en un biólogo molecular de 62 y 70 años de edad respectivamente. El patólogo realizó alrededor de 10.000 autopsias, 10 de ellas en casos definitivos de ECJ. Ambos médicos eran miembros de una familia afectada por la ECJ, con otros 2 casos probables y 1 definitivo en 2 generaciones sucesivas. En este último caso, fallecido en Italia, se demostró la presencia de una mutación en el codon 200 del cromosoma 20, hecho que ha sido también demostrado en otras 6 familias chilenas afectadas por la ECJ. Se concluye en que si bien el contacto físico con material orgánico proveniente de casos de ECJ es un potencial factor de riesgo para contraer la enfermedad, en los 2 casos presentados hay un mecanismo genético determinante que es de primordial importancia para explicar su manifestación clínica