Detection of WFS1 gene mutations in the Chinese pedigree with low frequency sensorineural hearing loss / 解放军医学杂志
Medical Journal of Chinese People's Liberation Army
;
(12)2001.
Artículo
en Chino
| WPRIM
| ID: wpr-556864
ABSTRACT
Objective To analyze the mutations of candidate WFS1 gene in the Chinese pedigree with Low frequency sensorineural hearing loss. Methods PCR were performed with fourteen pairs of primers in the coding sequence of WFS1 gene. The PCR products were subsequently sequenced in the 38 individuals of LFSNHL family for screening the gene mutations. Results The PCR amplification fragments showed well quality in the five pairs of primer, and further analysis with frequencing showed no polymorphism and mutations in the members. Conclusion The present study rule out the possibility that the deafness gene WFS1, which locates on the 4p16, lead up to the hearing loss of LFSNHL pedigree.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
Medical Journal of Chinese People's Liberation Army
Año:
2001
Tipo del documento:
Artículo
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