[Gene mutation in secundum atrial septal defect: analysis of a Chinese family with 3 patients].
Zhonghua Yi Xue Za Zhi
; 88(4): 250-3, 2008 Jan 22.
Article
en Zh
| MEDLINE
| ID: mdl-18361836
OBJECTIVE: To study the gene mutations of homeobox transcription factor (CSX/NKX(2.5)) associated with a Chinese family with secundum atrial septal defect (ASD). METHODS: Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, including 3 ASD patients and 10 non-patients, with the proband from Hunan province; and single strand conformation polymorphism analysis was used to check 126 normal control people for detecting the mutations of CSX/NKX(2.5) gene. RESULTS: Three heterozygous mutation [G270A (Glu32Lys), G378A (Glu68Lys) and G390A (Glu72Lys)] were identified in the CSX/NKX(2.5) gene of the ASD patients. However, the other members in the family with ASD patients and the controls did not have such gene mutations. CONCLUSION: The above mentioned mutations of CSX/NKX(2.5) gene identified in a Chinese family may be one of the secundum ASD etiologic causes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Proteínas de Homeodominio
/
Defectos del Tabique Interatrial
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Za Zhi
Año:
2008
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China