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

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.

Detection of herpes simplex virus DNA in cutaneous lesions of erythema multiforme by the polymerase chain reaction / 대한피부과학회지

Herpes simplex virus(HSV) infection has long been considered as a cause of erythema multiform(EM), especially the recurrent type, although its exact role in the pathogenesis of herpes-associated erytherna multiforme(HAEM) is unknown. In this study, HSV DNA was detected in 8 of 29 cases of EM by the polymerase chain reaction(PCR) and in 19 of 29 cases by Southern blot hybridization with PCR products. In 4 cases of EM, we performed PCR & Southern blot hybridization in both lesional and normal skin. HSV DNA was found in 3 of 4 cases of lesional skin but not detected in normal skins by Southern blot hybridization with PCR products. These results confirm the presence of HSV DNA in lesions of HAEM and support the concept of and HSV-specific immune-mediated pathogenesis for this disease.

Detection of Human Papillomavirus DNA in Condylomata Acuminata Patients using Molecular Hybridization / 대한피부과학회지

Condylomata acuminata are benign tumors which are mostly venereally transmitted. Common sites were coronal sulcus, perisnal area and prepuce. Among 28 patients, 21 acuminate lesions and 10 papular lesions were found. Twenty eight human genital warts in Korean were analysed by Southern blot hybridization. Sequences related to HPV6/11 are found in 89.3%(25/28) of the condylomata. HPV16 DNA was not found at sll. Subtype of HPV was determined by the restriction pattern of DNA cleaved with PstI restriction enzyme in 7 cases. Six cases of HPV6a and one case of HPV6c are found. The above results suggest that most of condylomata acuminata are caused by HPV6 and HPV11 in Korea.