MOLECULAR GENETIC DIAGNOSIS IN MALE INFERTILITY
Journal of Laboratory Medicine 1(16) 2016
The article discusses genetic causes of male infertility, the detection of which has become possible due to the introduction of molecular genetic technologies of patient examination. The data of our own studies are presented. The findings once again confirm the necessity of genetic testing for microdeletions of AZF loci in patients with infertility of unclear genesis and spermatogenesis disorders. Key words: male infertility, molecular genetic studies, AZF microdeletions of Y-chromosome.
FREQUENCY OF THROMBOPHILIA GENE POLYMORPHISMS
Journal of Reproductive Medicine #3-4 (20-21) 2014
Numerous studies of hereditary thrombophilia in obstetric and gynecological practice show the relevance of this pathogenetic mechanism of pregnancy complications. This article analyzes the frequency of F2, F5, ITGA2, MTR, MTHFR gene polymorphisms in patients who applied to the TreeGene laboratory in Almaty. The method of investigation was allele-specific PCR. 108 DNA samples were examined. The most frequent were mutations in platelet receptor genes and in the folate cycle system, and they were mostly heterozygous replacements. Only in one case a homozygous mutation in MTFHR gene was detected. Leiden mutation (F-5) and prothrombin mutation (F-2), the most significant in the development of thrombophilia, were much less common. Keywords: inherited thrombophilia, mutation, Leiden mutation, F2, F5, ITGA2, MTR, MTHFR
RISK OF BREAST AND OVARIAN CANCER CAUSED BY MUTATIONS IN THE BRCA1, BRCA2, AND CHEK2 GENES.
Kazakhstan Medical Journal (KMJ) #4 (34) August 2013
The most frequent malignant neoplasms in the republic in 2011 were breast cancer (11.6%), 3,515 people. Breast cancer is the most common cancer in the female population (21.4%), followed by skin tumors (11.6%), cervix (8.8%), and ovarian (5.7%). Breast cancer is a multifactorial disease, the development of which is associated both with the influence of environmental factors and individual features of the genome.
IL-28B GENE POLYMORPHISM IN ANTIVIRAL THERAPY OF CHRONIC HEPATITIS C
Kazakhstan Medical Journal (KMJ) #2 (32) April 2013
Viral hepatitis C is among the socially significant diseases and is one of the main causes of chronic liver disease. According to WHO estimates, 170 million people worldwide, or 3% of the population, are infected with hepatitis C virus (HCV). Despite great achievements in the study of the pathogenesis of acute and chronic hepatitis C, there are still many unresolved questions in the diagnosis, prevention and treatment of this infectious disease.
PERSONALIZED MEDICINE: PHARMACOGENETIC TESTING OF EFFECTIVE AND SAFE WARFARIN DOSING DAYS
Kazakhstan Medical Journal (KMJ) #5 (29) October 2012
In the 21st century, new groups of drugs (drugs) are being introduced into practical health care. Despite the fact that the use of drugs is based on the principles of evidence-based medicine, the effectiveness of therapy is only 60% (WHO, 2009). The incidence of adverse drug reactions (ADRs) is increasing. In the studies of many clinicians it was found that when prescribing a standard dose of many drugs, in some patients their concentration in blood becomes too high and side effects develop, in others the concentration remains too low and treatment becomes ineffective.
A STUDY OF FOLATE CYCLE GENE POLYMORPHISM IN KAZAKH ETHNIC WOMEN WITH PREGNANCY COMPLICATIONS
Journal of Laboratory Medicine 1(16) 2016
The aim of the study was to determine the frequency of alleles and polymorphic variants of folate cycle genes MTHFR, MTRR, MTR in women of Kazakh ethnic group with pregnancy complications. The polymorphism of the MTR, MTRR, and MTHFR genes was examined using allele-specific primers by PCR on a RealTime CFX96 amplifier (BioRad, USA). Detection of amplification products on the CFX96 BioRad was performed automatically in each amplification cycle. Comparative analysis of the allele frequency distributions of the MTR, MTRR, and MTHFR genes in the group of women with pregnancy complications revealed no significant differences from their frequency distributions in the control group. An analysis of the distribution of polymorphic variants of the folate cycle genes by the χ² and OR criteria showed that there were no significant differences between the group of women with pregnancy complications and the control groups in the frequencies of occurrence of homozygotes for the wild-type allele, heterozygotes, and homozygotes for the mutant allele. The proportion of the GG genotype (8.3%) of the MTR gene and the AG genotype (61.7%) of the MTRR gene tended to be 2.8 and 1.5 times higher in the women with pregnancy complications group than in the control group (3.0% and 42.4%, respectively). Key words: gene polymorphism, MTR, MTRR, MTHFR, thrombophilia, pregnancy complications.
NEW OPPORTUNITIES FOR PRENATAL DIAGNOSIS IN KAZAKHSTAN
Journal of Reproductive Medicine #3-4 (20-21) 2014
Prenatal diagnosis of trisomy in Kazakhstan is performed for all patients, both private and public institutions. Based on biochemical screening and ultrasound data, the risk of a fetus being born with a chromosomal abnormality is calculated. At high risk, invasive prenatal diagnosis with chorionic villus sampling and subsequent karyotyping is necessary. Karyotyping reveals almost all chromosomal abnormalities. Trisomies of 13, 18 and 21 pairs of chromosomes account for 90% of all congenital fetal abnormalities. Down syndrome accounts for 75% of these (Akulenko, Zolotukhina). These trisomies do not depend on the age of the patient, but the older the pregnant woman is, the more frequent they are. Despite considerable technical progress in prenatal diagnosis, all invasive procedures remain associated with a certain risk of pregnancy termination, especially in older women, so the performance of invasive procedures should be seriously motivated. A new "non-invasive" approach in prenatal diagnosis involves the examination of cells, extracellular DNA fragments and fetal RNA circulating in the peripheral blood of the mother.
Y CHROMOSOME ANCESTRY
Kazakhstan Medical Journal (KMJ) #3 (33) June 2013
Y-chromosome ancestry (or DNA genealogy) is a non-medical genetic analysis that allows anyone to touch their past and learn who their distant ancestors were and where they settled. The data that the interested person receives opens the door to further searches for information about the civilization of the ancestors, their way of life, migration routes, customs, segments of history, etc.
AZF-MICRODELETIONS OF THE Y-CHROMOSOME. MOLECULAR GENETIC STUDIES IN MALE INFERTILITY AVAILABLE IN KAZAKHSTAN
Kazakhstan Medical Journal (KMMJ) #6 (30) December 2012
HEALTHY OFFSPRING THROUGH CLINICAL GENETICS
Medical Trend Magazine № 2 (6) 2012