[Gene polymorphisms in patients with Down's syndrome].

Kuz'mina, N S; Ushenkova, L I; Shagirova, Zh M; Sheikhaev, G O; Mikhailov, V F; Kurbatova, L A; Mazurik, V K; Rubanovich, A V; Zasukhina, G D

Kuz'mina, N S; Ushenkova, L I; Shagirova, Zh M; Sheikhaev, G O; Mikhailov, V F; Kurbatova, L A; Mazurik, V K; Rubanovich, A V; Zasukhina, G D.

Zh Nevrol Psikhiatr Im S S Korsakova ; 109(4): 50-4, 2009.

Article en Ru | MEDLINE | ID: mdl-19491810

RESUMEN

Polymorphisms of glutation-S-transferase (GSTM1, GSTT1 GSTP1) and methylentetrahydrofolate reductase (MTHFR) genes have been studied in DNA from blood lymphocytes of 18 patients with Down's syndrome and 61 controls. Frequencies of normal alleles of GST genotypes were lower in patients as compared to the controls. A DNA analysis of 11 patients and 17 controls revealed the presence of mutations in region 246-250 of exon 7 of the p53 gene in 4 patients. Mutations were not found in the control group. Due to the small sample size, the results of this study should be interpreted with caution and need replication in larger studies.

Asunto(s)

ADN/genética; Síndrome de Down/genética; Glutatión Transferasa/genética; Metilenotetrahidrofolato Reductasa (NADPH2)/genética; Polimorfismo Genético; Adulto; Alelos; Niño; Síndrome de Down/enzimología; Frecuencia de los Genes; Genotipo; Glutatión Transferasa/sangre; Humanos; Metilenotetrahidrofolato Reductasa (NADPH2)/sangre; Mutación

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo Genético / ADN / Síndrome de Down / Metilenotetrahidrofolato Reductasa (NADPH2) / Glutatión Transferasa Límite: Adult / Child / Humans Idioma: Ru Revista: Zh Nevrol Psikhiatr Im S S Korsakova Asunto de la revista: NEUROLOGIA / PSIQUIATRIA Año: 2009 Tipo del documento: Article Pais de publicación: Rusia

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