Identification of STS gene mutation in patient with hereditary ichthyosis / Шинэ санаа Шинэ нээлт

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.

ГЕМОФИЛИ Б-ГИЙН F9 ГЕНИЙН МУТАЦИЙН СУДАЛГАА / Шинэ санаа Шинэ нээлт

@#BACKGROUND. Hemophilia B is X-linked recessive genetic disorder, caused by missing or defective factor IX that results in bleeding longer after an injury or surgery, easy bruising, and an increased risk of bleeding inside joints or the brain. The disorder affects approximately one in 30 000 males worldwide and 18 cases were registered in Mongolia according to statistics of Hemophillia Federation of Mongolia. The annual cost of episodic treatment of an adult with severe hemophilia estimated at ≈53000 USD owing to high cost of treatment developing countries has been adopted to prevent and to forecast the risk of inhibitor. Materials and Methods: The objective of this research is to determine F9 mutations in patients with Hemophillia B in Mongolian population and to assess correlation between genotype and phenotype of disease. Characterization of mutations was performed by direct sequencing of genomic DNA using a Sanger sequencing method. Briefly, the exon or part of the exon deletion was checked and amplified by polymerase chain reaction (PCR). Results: We identified four point mutations and one deletion. No large exon deletion was found in PCR amplification result. As expected, the most common mutations responsible for the disease were point mutations. In general, this study revealed 5 different mutations in unrelated 7 proband and there is good correlation between the type of mutation (location in the amino acid position and domain in the protein) and their functional outcome, yielding a predictable clinical severity.

Prenatal Screening for Congenital Defects birth / Монголын Анагаах Ухаан

The double and triple test is a prenatal screening used to identify those pregnant women who shouldbe offered a diagnostic test to identify whether their fetus has an aneuploidy. It was first described in1988, but has largely been superseded by newer tests either conducted earlier in the first trimester(ie, the combined test, using ultrasound measurement of nuchal translucency, pregnancy-associatedplasma protein A, and human chorionic gonadotrophin [hCG]) or in the second trimester (ie, thetriple and quadruple test, using α-fetoprotein, hCG, uE3, and inhibin).These newer tests have been introduced because they offer greater detection and lower screenpositive results thereby enhancing diagnosis rates, while decreasing the risk of iatrogenic harmcaused by the invasive testing required when collecting suitable sample tissue. Both first andsecond trimester screening programs have been expanded to include risk assignment for trisomy18. Targeted screening algorithms have not been developed for chromosomal abnormalities otherthan Down syndrome and trisomy 18, although it has been suggested that a trisomy13 risk might becalculated. The construction of such algorithms would require recognition of a characteristic patternfor each condition using the appropriate combination of markers. It is likely, therefore, that the doubleand triple test will continue to be used in routine antenatal care for the foreseeable future.

Genetic variants within the genus echinococcus identified by restriction fragments length polymorphism / Монголын Анагаах Ухаан

Background:Echinococcosis is from animals to humans and cause cestode zoonoses. Genetic variations within of echonoccocus and their genotypes may cause a disease as well as can indicate transmission dynamics to human and pets. At present, there are no available data for the typing of echinococcosis isolated in MongoliaMaterials and Methods:A total of 50 human hydatid samples from collected from State Centre on Maternal and Child Health, Oncology Centre of Mongolia. All samples were examined by PCR using cox1. The PCR products with a molecular size of 578 bp were amplified from human hydatid samples. Also we used RFLP method.Results:Genotype and strains of E. multilocularis and Е. granulosus were identified by RFLP. PCR products were digested using Ssp I, Hind III, Bgl II endonucleases. PCR products were digested by Ssp I endonuclease we found E. multilocularis. PCR products were digested by Bgl II endonuclease. Two major bands were seen in human hydatid sample. The bands have molecular weight of 420 and 158 bp respectively. It was infected by E. granulosus G6. Digestion with Hind III revealed two major bands within samples from human hydatids. These bands have molecular weight of 168, 410 bp respectively. These samples were infected by E. granulosus G1. Most of E. granulosus materials obtained from human patients by surgery confirmed the presence of sheep strain G1 (Bowles and McManus, 1993 a & c). In 24 cases of human hydatid echinococcosis in Mongolia sheep strain was found to be infective to humans.Conclusions:1. Echinococcosis caused by E. granulosus, E. multilocularis in human.2. G1, G6 genotypes of E. granulosus found in human hydatids.