Estudios genéticos sobre espina Bífida en Chile: por dónde comenzar?: [revisión] / Genetic studies of spina bifida in Chile: where do we start?: [review]
Rev. Hosp. Clin. Univ. Chile
;
22(2): 120-131, 2011. graf
Artículo
en Español
| LILACS
| ID: lil-613260
ABSTRACT
Neural tube defects (NTDs) are a group of congenital anomalies that affect the central nervious system. Spina Bifida (SB) is the most frecuent NTD in live births andi t is usually associated to disease, disability; and mortality. NTDs are considered as a multifactorial disease. Women who use folic acid periconceptionally are at a 50-70% reduced risk for NTD-affected pregnancies. More than 80 candidates genes to SB are been studied, someones related to folic acid metabolic pathway. MTHFR gene is the gene more studied in NTDs. Its allele 677T is asóciate to higher risk to NTD. It is important to study polymorphisms in MTHFR gene in Chile because Chilean population has dfferent ethnic origen from others previous studied populations.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Disrafia Espinal
Límite:
Femenino
/
Humanos
/
Recién Nacido
/
Embarazo
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. Hosp. Clin. Univ. Chile
Asunto de la revista:
Medicina
Año:
2011
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Hospital Clínico Universidad de Chile/CL
Similares
MEDLINE
...
LILACS
LIS