[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(3): 267-71, 2009 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-19504437
ABSTRACT
OBJECTIVE:
To determine the inheritance mode and pathogenesis of a family with brachydactyly type A1 in Jining, Shandong province via clinical feature and disease gene analysis.METHODS:
Family survey and clinical examinations were performed to determine the inheritance mode; microsatellite polymorphic markers and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)were employed for linkage analysis and mutation screening respectively.RESULTS:
The brachydactyly type of the family was type A1 (BDA1), and autosomal dominant inheritance. A missense mutation (G298A) of the indian hedgehog gene (IHH) was identified in the patients of this family.CONCLUSION:
A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Familia
/
Deformidades Congénitas de las Extremidades
/
Mutación Missense
/
Proteínas Hedgehog
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2009
Tipo del documento:
Article