RESUMO
In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.
Assuntos
Feminino , Humanos , Recém-Nascido , Fenda Labial/genética , Fissura Palatina/genética , Ácido Fólico/análogos & derivados , Proteínas de Membrana Transportadoras/genética , População Negra , Fenda Labial/etnologia , Fissura Palatina/etnologia , DNA Mitocondrial/genética , População Branca , Ácido Fólico/genética , Marcadores Genéticos , Predisposição Genética para Doença/genética , Haplótipos , Indígenas Sul-Americanos , Polimorfismo Genético , América do SulRESUMO
El objetivo de esta investigación es definir el perfirl de consumo de medicamentos durante el primer trimestre del embarazo y detectar el uso de potenciales teratógenos
Assuntos
Humanos , Feminino , Desenvolvimento Fetal/efeitos dos fármacos , Gravidez , Primeiro Trimestre da Gravidez/efeitos dos fármacos , TeratogênicosRESUMO
Evaluar el impacto que, posibles acciones sobre la estructura etaria materna que tiendad a transferir la ocurrencia de embarazos en los extremos del ciclo reproductivo hacia edades maternas asociadas a un menor riesgo perinatal, representarian en la frecuencia de diversas anomalias del desarrollo
Assuntos
Humanos , Feminino , Gravidez , Desenvolvimento Fetal , Idade Gestacional , Recém-Nascido , Prevenção PrimáriaRESUMO
La frecuencia de nevos pigmentados congenitos (NPC) en una serie de nacimientos consecutivos, entre los anos 1967 y 1979, fue 283/30.091 = 0,94%, sin existir diferencias por sexo. Esta frecuencia registrada esta viciada por subregistro, estimandose que la frecuencia real de los NPC debe estar entre 1,5 y 2,0%. Este subregistro afecta principalmente a los NPC leves (unicos, menores de 10 mm, de textura normal), por lo que la proporcion de nevos "graves" debe ser interpretado de acuerdo a la tasa global de incidencia esta 12 veces mayor que la de la poblacion en general. Esta agregacion familiar parece deberse a un mecanismo de herencia multifactorial de alta heredabilidad (H2 = 83,5%), sin indicacion de efectos de dominancia