[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(1): 95-8, 2013 Feb.
Article
en Zh
| MEDLINE
| ID: mdl-23450490
ABSTRACT
OBJECTIVE:
To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.METHODS:
Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.RESULTS:
For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported.CONCLUSION:
No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Exostosis Múltiple Hereditaria
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N-Acetilglucosaminiltransferasas
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Pueblo Asiatico
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
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Screening_studies
Límite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article