Showing 6 results for Mutation
Movahedian A, Alizadeh Sharg Sh, Rahmani S Z, Dolatkhah H,
Volume 6, Issue 1 (4-2012)
Abstract
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other gene mutations such as apolipoprotein B- gene may cause similar results. Preliminary research indicates that the FH phenotype is also influenced by other genetic and environmental Factors therefore, routine clinical analysis such as total cholesterol and LDL-C levels in serum, for early diagnosis and treatment, are not sufficient. Molecular diagnostic investigations, because of high specifity and sensitivity near %100, administered for determining the prevalent mutations in LDLR (and probably other genes) are needed for exact diagnosis and accurate therapy. Currently, PCR-SSCP and southern blotting techniques are among the common techniques that could detect major mutations in gene. Because of wide diversity in kinds of mutations in LDLR gene, we recommend, first, determining the proband's mutation and kinds of mutation, then, performing routine test based on type of mutation. Key words: Familial hyperlipoproteinemia, LDL-R gene molecular diagnosis, mutation, Molecular Diagnostic Method
Rezanezhadi, M, Tabarraei, A, Zhand, S, Moradi, A, Nezamzade, R, Vakili, Ma,
Volume 8, Issue 5 (1-2015)
Abstract
Abstract Background and Objective: Lamivudine is the first orally available drug approved for treatment of chronic hepatitis B. Mutations at the YMDD and FLLAQ motifs in the domains of HBV polymerase gene contribute resistance to lamivudine. This study was aimed to determine the rate of YMDD and FLLAQ mutants in hepatitis B patients in Golestan Province, Iran. Material and methods: In this cross sectional study, 120 patients with chronic HBV infection were recruited. Of them, 55 were treated and 65 untreated with Lamivudine. HBV DNA extractions from plasma and polymerase chain reaction (PCR) were performed. For detection of Lamivudine mutants direct sequencing and alignment of products were applied using reference sequence from Gene Bank database. Results: the average age of patients was 36.31±10.07, which 35% of them were female and 65% were male. Mutations at the YMDD and FLLAQ motifs in the domains of HBV polymerase gene were detected in 12 of 55 patients (21.81%) treated with Lamivudine while no mutation was observed in in untreated patients. The YMDD and FLLAQ mutants were detected in 9.16% (11/120) and 0.83% (1/120) of chronic HBV patients, respectively. Conclusion: Usual HBV mutations, which play an important role in lamivudine resistance, detected in this study are similar to other studies. Key words: Hepatitis B Viruse, YMDD Mutation, Lamivudine, Iran.
Farzane Salarneia , Sare Zhand , Behnaz Khodabakhshi , Alijan Tabarraei , Mohammad Ali Vakili , Naeme Javid , Masoud Bazori , Abdolvahab Moradi ,
Volume 10, Issue 1 (1-2016)
Abstract
Abstract
Background and objective: Hepatitis B virus (HBV) is a DNA virus with high tendency toward hepatic tissue. There are currently about 3 million HBV-infected people and 350 to 400 million chronic carriers of this virus in the world. X protein plays a role in the over-expression of oncogenes, carcinogenicity of liver cells and overlaps with the basal core promoter of the virus. Mutations at specific nucleotides of this region increase viral replication and liver disease progression. The aim of this study was to investigate the frequency of mutations at nucleotides 1762, 1764 and 1766 of HBV X gene in patients with chronic hepatitis B and hepatitis B-related cirrhosis.
Methods: In this study, 102 patients including 68 chronic hepatitis patients and 34 patients with hepatitis B-related cirrhosis were enrolled. After DNA extraction, HBV X gene was amplified and sequenced using Semi Nested-PCR. Obtained gene sequences were compared with the standard sequence of HBV virus X gene available in the gene bank (Okamoto AB033559). Then, the mutations in the gene X of HBV were identified.
Results: Comparison of the standard sequence with sequences obtained from patients showed the presence of A1762T / G1764A mutation in 12 chronic (17.64%) and 13 cirrhotic (38.23%) patients. Also, C1766G / G1764T mutations were found in 8.23% of chronic patients and 17.64% of cirrhotic patients.
Conclusion: A1762T / G1764A mutations in the overlapping region of the basal core promoter with gene X C-terminal may lead to liver disease progression from chronic hepatitis to cirrhosis, by changing the amino acid sequence of the X protein.
Ahmad Hosseinzadeh Adli , Chiman Karami , Sareh Zhand , Reza Talei , Abdolvahab Moradi ,
Volume 10, Issue 4 (7-2016)
Abstract
ABSTRACT
Background and objectives: Globally, about one third of the population has been infected with Hepatitis B virus (HBV) and more than 400 million people have become chronically infected. Nearly, 20-25% of all carriers develop serious liver diseases such as cirrhosis, chronic hepatitis and hepatocellular carcinoma (HCC). According to the World Health Organization, HBV infection causes more than one million deaths every year. Co-infection with Human Immunodeficiency virus (HIV) and HBV is common, since both viruses have the same routes of transmission. Approximately 10 -15% of HIV-infected individuals develop chronic hepatitis B. The risk of liver diseases-related deaths is also higher in the co-infected patients. According to previous studies, mutation of the pre-core (PC) and basal-core promoter (BCP) regions may play an important role in development of HBV-related HCC and severe liver disease. The aim of this study was to investigate mutations in the BCP, PC and core regions of HBV in HIV-positive patients.
Methods: DNA was extracted using commercial kits to determine the BCP, PC/core mutations in 124 HIV/HBV co-infected patients (32.4% female and 67.6% male). Polymerase chain reaction (PCR) was performed using specific primers. The positive PCR products were subjected to automated sequencing. Then, nucleotide sequences were aligned with the standard hepatitis B sequence [Gene bank, accession number: AB033559] for mutation detection and analysis.
Results: In this study, three patients (8.1%) were HBeAg-positive and all of them were HBsAg-positive. The mean of CD4 cell count was 120 cells/mL. The mean age of the patients was 36.16 years. The important pathological mutations in HBV patients including 1752A (73%), 1773C (70.3%), 1753C (10.8%), 1896A (8.1%) and 1762T/1764A (2.7%) were detected in this study.
Conclusion: Identification of mutations in co-infected patients is of greater importance compared to mono-infected patients, because it can be useful for prediction of HCC-related mutations. Co-infection with HIV has important effects on the natural history of HBV infection, and creates different mutational patterns compared to mono-infected patients.
Keywords: HBV, HIV, Mutation.
Fatemeh Asadi , Seyedeh Moloud Rasouli Ghahfarokhi , Forough Talebi ,
Volume 13, Issue 2 (3-2019)
Abstract
ABSTRACT
Background and Objectives:
Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with
thalassemia and other
hemoglobinopathies in Masjed Soleiman County, Iran.
Methods: This descriptive study was carried out on 456 individuals suspected of having hemoglobinopathies who were referred to health centers of the Masjed Soleiman Country in 2015-2017. Blood samples were collected in EDTA tubes. Complete blood count test was performed and red blood cell indices were determined. Level of Hb variants was measured using capillary electrophoresis. Reverse dot-blot, gap-polymerase chain reaction and Sanger sequencing were carried out to detect mutations.
Results: We found that 17.7% of the subjects were heterozygous for β-thalassemia. Frequency of mutations 36
/37 (–T), IVS-II-1 (G
>A) and IVS-I-110 (G
>A)
in the β-globin gene was 26.7%, 22% and 16.27%, respectively. In addition,
9.5% of the subjects contained Hb S, Hb D and Hb C, while 1.1% of the subjects showed co-inheritance of an Hb variant and β-thalassemia. In subjects with α-thalassemia, the -α3.7 (57.1%), --
MED–(17.4%), -α
4.2 (3.1%) and -
α20.5 (1.5%) deletions were found as the most prevalent mutations.
Conclusion: In addition to the high prevalence of β-thalassemia and HBB gene mutations, we detected variants Hb S, Hb D, Hb C and co-inheritance of an Hb variants and β-thalassemia in individuals living in the Masjed Soleiman Country. We also identified four mutations in the α-globin gene. These results can be useful for genetic counseling in this population.
- : Hemoglobinopathies, β-Thalassemia, α-Thalassemia, mutation, HB variant.
Zeinab Siahmargoie, Mohammad Taher Hojjati, Hadi Bazzazi, Khodaberdi Kalavi, Mana Zakeri, Hadi Joshaghani,
Volume 19, Issue 1 (4-2025)
Abstract
Background: Polycythemia Vera (PCV) is a type of myeloproliferative neoplasm (MPN) in which the progenitors of the erythroid lineage become overactive and produce large amounts of red blood cells (RBCs). More than 90% of people with PCV have a Janus kinase 2 (JAK2) gene mutation. In this study, we examined the status of possible JAK2 gene mutations in people with higher-than-normal hemoglobin (Hb) levels that physicians introduced to the laboratory.
Methods: In this descriptive cross-sectional study, JAK2 alleles were tested for possible JAK2 mutations in genomic DNA of 72 cases using a TaqMan-specific probe.
Results: Out of 72 patients, 24 were women (33.3%) and 48 (66.6%) were men, among them 39 (54.2%) were negative and 33 cases (45.5%) were positive for JAK2 mutation. The data also showed that 15 out of 24 female patients (62.5%) had positive JAK2 mutation, while in the male patients, 18 out of 48 (37.5%) were positive for JAK2 mutation.
Conclusion: According to our research, investigation of the Jak2 mutation, especially in women who had Hb levels upper than normal, seems to be necessary.
