Background: Identifying pathogenic variants in the F8, F9 gene in patients with hemophilia A (HA) and Hemophilia B (HB) is crucial for improving genetic counseling, understanding genotype–phenotype correlations, assessing inhibitor risk, and establishing family-specific mutation profiles. Aim: To detect mutations in the F8 and F9 genes among people with hemophilia A and B diagnosed in Mongolia. Materials and Methods: Long-distance PCR were used to detect intron-22 and intron-1 inversions. Sanger sequencing identified nucleotide substitutions, deletion, and insertion in F8 and F9 gene. Result: Thirty-two male patients with HA (30 severe, one moderate, and one mild) from 27 unrelated families, eight patients with Hemophilia B were analyzed. Among 25 families with severe HA, pathogenic variants were found in 24 families (95.6%). Large structural rearrangements were detected in 22 patients from 19 families, including intron-22 inversion in 16 cases of 14 families, intron-1 inversion in four cases from three families, and two large deletions found in two unrelated families. In one severe case, no pathogenic variant was identified in the entire F8 gene. Small scale changes were identified in the remaining patients, including missense in three families and two frameshift variants, all associated with severe phenotype. We found novel c.2240del variant and classified as pathogenic. A known polymorphism (c.3864A>C) was identified in one patient with moderate HA, while a novel intronic deletion (c.1010-106delA) was detected in a patient with mild disease. Two families had a history of HB. A total of five different variants (c.223C>T; c.344A>G; c.464G>C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C>T (p.Arg75*) mutation was detected in two unrelated patients. Conclusion Intron-22 (56%) and intron-1 (12%) inversions were detected in families with severe HA. A novel c.2240del variant was also identified in association with a severe phenotype. The novel variants c.187_188del and c.1314_1314delA of F9 can cause severe Hemophilia B.

Background: Hemophilia A (HA) and hemophilia B (HB) are monogenic bleeding disorders caused by pathogenic variants in the F8 and F9 genes, respectively, which are located on the X chromosome and result in deficiencies of coagulation factor VIII (FVIII) and factor IX (FIX). The diseases predominantly affect males, while females are usually asymptomatic heterozygous carriers. Identification of female carriers among relatives of affected males is important for preventing bleeding complications associated with surgery and childbirth. Aim: The main aim of this study was to detect carrier and non-carrier women and compare some phenotypes. Materials and Methods: The study included 50 female relatives of 32 male patients diagnosed with hemophilia A and 13 female relatives of 8 male patients diagnosed with hemophilia B, giving a total of 63 female relatives. Molecular genetic testing was performed to identify the pathogenic variants previously detected in the probands and to determine the carrier status of female relatives. Among them, 33 confirmed carriers and 18 non-carriers completed a 28-item questionnaire comprising three sections to assess bleeding-related symptoms. The questionnaire evaluated easy bruising, duration of menstruation, postpartum bleeding, and bleeding following injuries, surgical procedures, and dental procedures. Questionnaire findings were compared between molecularly confirmed carriers and non-carriers. Continuous variables were compared using the Mann–Whitney U test, while categorical variables were analyzed using Fisher’s exact test in R software. In female relatives of patients with hemophilia A, plasma FVIII activity was also measured. Result: Molecular genetic testing was performed in 52 female relatives. Eleven women were excluded from carrier-status analysis because no pathogenic variant was identified in the F8 or F9 gene of their respective probands. Among 43 female relatives of patients with hemophilia A who underwent carrier testing, 26 (60.4%) were identified as carriers and 17 (39.5%) as non-carriers. Among eight male patients with hemophilia B, pathogenic F9 variants were identified in six; among their seven female relatives, six were confirmed carriers and one was a non-carrier. The mean FVIII activity among heterozygous HA carriers was 58.5±20.6 IU/dL (n=17), which was significantly lower than that of non-carriers (101±28.8 IU/dL; p<0.001). Of the nine bleeding-related symptoms assessed, only easy bruising of the skin was significantly more common among carriers (OR=6.8; p=0.0069). Although prolonged menstrual bleeding and bleeding after childbirth, surgery, or dental procedures were reported among some carriers, no statistically significant differences were observed between carriers and non-carriers. Conclusion Among female relatives of males diagnosed with Hemophilia A or B in Mongolia, 32 (64%) of 50 women were identified as carriers and 18 (36%) as non-carriers. Plasma FVIII activity was significantly lower in HA carriers than in non-carriers (58.5±20.6 IU/dL vs. 101±28.8 IU/dL; p<0.001). Easy bruising was significantly more frequent among carriers (OR=6.8; p=0.0069). These findings support the importance of molecular genetic testing for identifying female carriers and recognizing women who may be at increased risk of bleeding, particularly in the context of surgery and childbirth.

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.

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.

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.

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.