Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.
J Korean Med Sci
; 24(6): 1045-50, 2009 Dec.
Article
en En
| MEDLINE
| ID: mdl-19949658
ABSTRACT
Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 10 unrelated families and found that all patients had an identical homozygous single-base substitution of C to T in exon 1 (c.7C>T) of the CYBA gene, which was expected to result in a nonsense mutation (p.Q3X). Because Jeju Island has long been a geologically isolated region, the high prevalence of CGD on Jeju Island is presumably associated with an identical mutation inherited from a common ancestor or proband.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
NADPH Oxidasas
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Pueblo Asiatico
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Enfermedad Granulomatosa Crónica
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Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
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Adult
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Animals
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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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Infant
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Korean Med Sci
Asunto de la revista:
MEDICINA
Año:
2009
Tipo del documento:
Article