Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization / 대한피부과학회지
Korean Journal of Dermatology
;
: 857-865, 1993.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Wills
/
Factor VIII
/
Blotting, Southern
/
Gene Deletion
/
Gene Dosage
/
Steryl-Sulfatase
/
Diagnosis
/
Ichthyosis
/
Korea
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
1993
Type:
Article
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