Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization / 대한피부과학회지
Korean Journal of Dermatology
;
: 857-865, 1993.
Artigo
em Coreano
| WPRIM
| ID: wpr-32814
ABSTRACT
BACKGROUND:
The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND MEHTODS To disgnose X-linked recessive ichthyosis and detect its carrier, we have investigated distinctive gene deletion and measured gene dosage of steroid sulfatase gene by southern blot hybridization in Korean patients with X-linked recessive ichthyosis.RESULTS:
Patients from 8 of 9 unrelated families exhibited deletions, if the steroid sulfatase gene. Of 6 families showing a family history compatible with X-linked recessive inheritance, One family exhibited a normal pattern of hybridization. All but one family showed deletion of steroid sulfatase gene. All three patients lacking a fami1y history of the disease exhibited gene deletions. The ratio of the steroid sulfatsse specific band density to the Factor VIII specific band density was measured in 8 obligate carriers using a laser densitometer. The average ratio exhibited by the car riers was less than half that of normal women. Conclusian These results suggest that the X-linked recessive ichth osis patient and its carrier can also be diagnosed and detected by Southern blot hybridization of steroid sulfatase gene in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pele
/
Testamentos
/
Fator VIII
/
Southern Blotting
/
Deleção de Genes
/
Dosagem de Genes
/
Esteril-Sulfatase
/
Diagnóstico
/
Ictiose
/
Coreia (Geográfico)
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
1993
Tipo de documento:
Artigo
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