Identification of STS gene mutation in patient with hereditary ichthyosis
- VernacularTitle:Загасан хайрстал өвчний эмнэлзүйн тохиолдолд хийсэн удамзүйн судалгааны үр дүн
- Author:
Purevdorj M
1
;
Udval U
1
;
Davaadulam E
1
;
Purevbuyan B
2
;
Sarangerel N
1
;
Purevdorj I
1
Author Information
1. MNUMS, School of Bio-Medicine
2. Bona Vita laboratory
- Publication Type:Journal Article
- Keywords:
Ichthyosis;
mutation;
STS gene;
X recessive
- From:Innovation
2020;14(1):28-31
- CountryMongolia
- Language:Mongolian
-
Abstract:
Background:The ichthyosis is a hereditary skin disease and inherited by autosomal dominant,
autosomal recessive and X recessive trait separately. The X-linked ichthyosis (XLI) is the most
frequent cutaneous disease and general incidence accounts for one in 2000-5000 male births.
Molecular pathogenesis of XLI is due to mutations, which are large deletion, missense, frame shift
and nonsense in STS gene. The vast majority of mutation frequency is a large deletion, which are
found in 85-90% of patients with XLI. An exon deletion of the STS can be detected by Polymerase
chain reaction with exon specific primers. An identification of STS gene mutation has various
importance such as 1) detection of mutation type; 2) for genetic counselling, 3) disease severity,
4) carrier detection.
Methods:In the present study, pedigree analysis was used for type of inheritance, and Polymerase
chain reaction was used to detect a deletion in STS gene and normal control used. A deletion was
identified in case PCR bands were not visualized in agarose gels.
Results:We included one patient, who had typical symptoms of XLI including dark, adherent
scales on skin. Mutation analysis of the STS gene showed that the patient had whole gene deletion
(del: Exon 1-10), which was demonstrated by the repeated amplification failure of exons. We used
a sample of healthy man as a wild type control, which showed normal amplification of STS gene’s
exons. Further, the current study will be focused on the screening of heterozygote large deletion
of Del: Exon1-10 of STS gene among patient’s female relatives.
Conclusion:An ichthyosis case enrolled in this study was inherited by X-recessive and we
identified whole exon deletion of STS gene in this patient.
- Full text:Innovation-2020-14(1);28-31.pdf
