Korean J Dermatol.  1993 Dec;31(6):857-865.

Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization

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.

Keyword

X-linked Recessive Ichthyosis; Carriers; Southern Blot Hybridization

MeSH Terms

Blotting, Southern*
Diagnosis*
Factor VIII
Female
Gene Deletion
Gene Dosage
Humans
Ichthyosis*
Korea
Skin
Steryl-Sulfatase
Wills
Factor VIII
Steryl-Sulfatase
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