Spectrum and frequency of GJB2 (Cx26) gene mutations in patients with hearing impairments in the Republic of Buryatia

2021 ◽  
pp. 26-36
Author(s):  
В.Г. Пшенникова ◽  
А.М. Чердонова ◽  
Ф.М. Терютин ◽  
Г.П. Романов ◽  
А.В. Соловьев ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Gene Mutations ◽  
Total Sample ◽  
Molecular Genetic Analysis ◽  
Gjb2 Gene ◽  
Hearing Impairments ◽  
C 23 ◽  
Syndromic Hearing Loss ◽  
The Republic ◽  
Biallelic Mutations

В диагностике наследственной несиндромальной потери слуха высокую информативность обеспечивают методы молекулярно-генетического анализа мутаций гена GJB2 (Cx26). Впервые в Республике Бурятия (Восточная Сибирь) путем прямого секвенирования были определены спектр и частота мутаций гена GJB2 у 165 индивидов с нарушениями слуха. В обследованной выборке было обнаружено 13 известных аллельных вариантов гена GJB2 (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delАТ, c.327_328delinsA, c.341A>G, c.457G>A и c.516G>C). У пациентов бурятов мутационный спектр был представлен пятью патогенными GJB2-вариантами: c.-23+1G>A (4,1%), c.109G>A (0,6%), c.235delC (1,4%), c.327_328delGGinsA (0,6%), c.516G>C (0,6%). Среди русских пациентов было обнаружено пять мутаций: c.35delG (25,7%), c.-23+1G>A (3,3%), c.101Т>С (0,6%), c.109G>A (1,9%), c.299_300delАТ (0,6%). Вклад биаллельных мутаций гена GJB2 в этиологию потери слуха в общей выборке пациентов из Бурятии составил 15,8% (26/165). При распределении пациентов по этнической принадлежности вклад биаллельных мутаций гена GJB2 в этиологию потери слуха у русских составил 28,9% (22/76), в то время как у бурятов лишь 5,1% (4/79). Таким образом, результаты нашего исследования свидетельствуют о том, что мутации гена GJB2 не являются основной причиной потери слуха у бурятов. Вероятно, у большей части GJB2-негативных пациентов потеря слуха может быть обусловлена мутациями в других генах, ответственных за развитие наследственных нарушений слуха. In the diagnosis of hereditary non-syndromic hearing loss (HL), the methods of molecular genetic analysis of the GJB2 (Cx26) gene mutations provide high valuable information. For the first time, in the Republic of Buryatia (Eastern Siberia), the spectrum and frequency of GJB2 gene mutations were determined in a sample of 165 individuals with HL using sequencing of significant regions of the GJB2 gene. A total of 13 known allelic variants were found (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delAT, c.327_328delinsA, c.341A>G, c.457G>A u c.516G>C). In the sample of Buryat patients, the mutation spectrum was represented by five GJB2 variants: c.-23+1G>A (4.1%), c.109G>A (0.6%), c.235delC (1.4%), c.327_328delGGinsA (0.6%), c.516G>C (0.6%). Five mutations were found among Russian patients: c.35delG (25.7%), c.-23+1G>A (3.3%), c.109G>A (1.9%), c.101T>C (0.6%), c.299_300delAT (0.6%). In general, the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in the total sample of patients in Buryatia was 15.8% (26/165). When the total sample of patients was divided by ethnicity the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in Buryat patients was 5.1% (4/79), and in Russian patients - 28.9% (22/76). Thus, the results of our study indicate that the mutations in the GJB2 gene are not the main cause of HL in Buryats. Probably, in some GJB2-negative patients (84.2% in our study), HL may be due to the mutations in other genes responsible for the development of hereditary hearing impairments.

scholarly journals The pattern of genetic diversity of different breeds of pigs based on microsatellite analysis

2020 ◽  
Vol 24 (7) ◽  
pp. 747-754
Author(s):  
V. R. Kharzinova ◽  
N. A. Zinovieva
Keyword(s):  
Genetic Diversity ◽  
Genetic Relationships ◽  
Molecular Genetic ◽  
Genetic Material ◽  
Animal Husbandry ◽  
Molecular Genetic Analysis ◽  
Fixation Index ◽  
Large White ◽  
Black And White ◽  
The Republic

One of the main tasks of genetics and animal breeding is the assessment of genetic diversity and the study of genetic relationships between different breeds and populations using molecular genetic analysis methods. We analysed the polymorphism of microsatellites and the information on the state of genetic diversity and the population structure of local breeds in Russia: the Kemerovo, the Berkshire, the Liven, the Mangalitsa, and the Civilian; in the Republic of Belarus: the Large White and the Black-and-White; and in Ukraine: the White Steppe, as well as commercial breeds of imported origin of domestic reproduction: the Large White, the Landrace, and the Duroc. The materials used for this study were the tissue and DNA samples extracted from 1,194 pigs and DNA of the UNU “Genetic material bank of domestic and wild animal species and birds” of the L.K. Ernst Federal Research Center for Animal Husbandry. Polymorphisms of 10 microsatellites (S0155, S0355, S0386, SW24, SO005, SW72, SW951, S0101, SW240, and SW857) were determined according to the previously developed technique using DNA analyser ABI3130xl. To estimate the allele pool of each population, the average number of alleles (NA), the effective number of alleles (NE ) based on the locus, the rarified allelic richness (AR), the observed (HO ) and expected (HE ) heterozygosity, and the fixation index (FIS) were calculated. The degree of genetic differentiation of the breeds was assessed based on the pairwise values of FST and D. The analysis of the allelic and genetic diversity parameters of the local breeds showed that the maximum and minimum levels of polymorphism were observed in pigs of the Ukrainian White Steppe breed (NA = 6.500, NE = 3.709, and AR = 6.020) and in pigs of the Duroc breed (NA = 4.875, NE = 2.119, and AR = 3.821), respectively. The highest level of genetic diversity was found in the Large White breed of the Republic of Belarus (HO = 0.707 and NE = 0.702). The minimum level of genetic diversity was found in pigs of the imported breeds – the Landrace (HO = 0.459, HE = 0.400) and the Duroc (HO = 0.480, HE = 0.469) – indicating a high selection pressure in these breeds. Based on the results of phylogenetic analysis, the genetic origin of Large White pigs, the breeds, from which the Berkshire pigs originated, and the genetic detachment of the Landrace from the Mangalitsa breeds were revealed. The cluster analysis showed a genetic consolidation of the Black-and-White, the Berkshire, and the Mangalitsa pigs. Additionally, the imported breeds with clustering depending on the origin were characterised by a genetic structure different from that of the other breeds. The information obtained from these studies can serve as a guide for the management and breeding strategies of the pig breeds studied, to allow their better use and conservation.

scholarly journals Genetics of non Syndromic Hearing Loss in the Republic of Macedonia

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 57-59 ◽  
Author(s):  
Emilija Sukarova Stefanovska ◽  
D Plaseska Karanfilska ◽  
M Cakar ◽  
I Filipce
Keyword(s):  
Hearing Loss ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Developed Countries ◽  
Deaf Children ◽  
Mtdna Mutations ◽  
Republic Of Macedonia ◽  
Syndromic Hearing Loss ◽  
The Republic ◽  
Genetic And Environmental Factors

ABSTRACT Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries. The genetic basis of hearing loss is complex with numerous loci and genes underlying hereditary sensoryneural non syndromic hearing loss (NSHL) in humans. Despite the wide functional heterogeneity of the genes, mutations in the GJB2 gene are found to be the most common cause of sporadic and recessive NSHL in many populations worldwide. Molecular characterization of deafness in the Republic of Macedonia was performed in 130 NSHL profoundly deaf children from different ethnic origins. Molecular studies included direct sequencing of the GJB2 gene and specific polymerase chain reaction (PCR) analyses for the del(GJB6- D13S1830) mutation. Five common mitochondrial DNA (mtDNA) mutations [A1555G, 961delT+ C(n), T1095C, C1494T and A827G] were also analyzed using the SNaPShot method. In preliminary studies, GJB2 gene mutations were found in 36.4% of analyzed patients, with predominance of 35delG in Macedonian and Albanian patients and W24X in Gypsy patients, respectively. No del(GJB6- D13S1830) mutation was found. None of the analyzed deafness-associated mutations in mtDNA were identified in the studied patients

scholarly journals Comprehensive Assessment of Promising Potato Hybrids of Breeding VSC RAS

2021 ◽  
Author(s):  
Fatima Gerieva ◽  
Viktoria Biryukova ◽  
Irina Gazdanova
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Comprehensive Assessment ◽  
Marketable Yield ◽  
Scientific Center ◽  
Gene Markers ◽  
Russian Scientific ◽  
I 11 ◽  
The Republic ◽  
Optimal Protection

Using the traditional and marker-assisted selection methods, a comprehensive assessment of promising hybrids from the collection of the All-Russian Scientific Center was carried out. The assessment was conducted in 2018–2019 in the Republic of North Ossetia-Alania. As a result of molecular genetic analysis, hybrids were found with complex resistance to potato nematode, virus Y and X viruses - 2 / V, 5 / V, 6 / V, 17 / V, 40 / V, 43 / V, 46 / V, 54 / V, 124 / V, 9 / VI, 22a / VI, 35 / VI, 130 / VI, 71 / VII and 118 / VIII. Use of these selected forms allows optimal protection of potatoes, limitation of the spread of pathogens and prevention of the emergence of more aggressive pathotypes (races and strains). The hybrids with resistance to potato virus Y (with the presence of R-gene markers - 1/I, 3/I, 10/I, 13/I, 11/II, 15/III, 2/V, 5/V, 6/V, 7/V, 10/V/1140, 17/V, 40/V, 43/V, 46/V, 54/V, 124/V, 9/VI, 22a/VI, 35/VI, 100/VI, 130/VI, 71/VII) are of interest for practical breeding, as well as the hybrids with resistance to Phytophthora infestans such as 15/III, 119/IX and the hybrids 15 / III, 35 / VI, 130 / VI and 71 / VII, which have high marketable yield and weight of tuber. Keywords: potato, interspecific hybrids, marker-assisted breeding, resistance genes

Characterization of plasminogen variants in healthy subjects and plasminogen mutants in patients with inherited plasminogen deficiency by isoelectric focusing gel electrophoresis

2004 ◽  
Vol 92 (08) ◽  
pp. 352-357 ◽  
Author(s):  
Katrin Tefs ◽  
Maria Georgieva ◽  
Stefan Seregard ◽  
Campbell Tait ◽  
Lori Luchtman-Jones ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Gel Electrophoresis ◽  
Healthy Subjects ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Wild Type ◽  
Ligneous Conjunctivitis

SummaryPlasmin(ogen) plays an important role in fibrinolysis and wound healing. Severe hypoplasminogenemia has recently been linked to ligneous conjunctivitis. Plasminogen (plg) is known as a polymorphic protein and most of these variants have been identified using isoelectric focusing (IEF) gel electrophoresis. Here, we studied common plg variants from healthy subjects and plg mutants from three patients with hypoplasminogenemia and three subjects with dysplasminogenemia by molecular genetic analysis and IEF. Analysis of 24 healthy subjects showed that subjects with the most common IEF plg phenotype A (n = 12) were homozygous for aspartate at position 453 (453D), while both subjects with IEF plg phenotype B were homozygous for asparagine at this position (453N). Subjects with IEF plg phenotype AB (n = 10) were compound-heterozygous for 453D/453N. Three patients with severe hypoplasminogenemia and different plg gene mutations exhibited characteristic “abnormal” IEF band patterns when compared with IEF plg phenotypes A and B. In all heterozygous family members the observed IEF plg phenotype was derived from the wild type plg molecule only, probably due to low concentration of the mutant plg molecule in plasma. In contrast, in three unrelated subjects with heterozygous dysplasminogenemia an equal “mixture” of wild type and mutant plg was found by IEF analysis. In conclusion, plg phenotyping by IEF in combination with molecular analysis of the plg gene seems to be a useful method for characterization of plg variants and mutants.

scholarly journals INFLUENCE OF BLOOD GROUPS, CAST AND BLG GENES ON PRODUCTIVITY OF THE SHEEP AND GOATS OF THE ALTAY REPUBLIC

2018 ◽  
Vol 48 (4) ◽  
pp. 63-71
Author(s):  
G. M. Goncharenko ◽  
N. V. Grishina ◽  
T. S. Khoroshilova ◽  
I. V. Romanchuk ◽  
T. B. Kargachakova ◽  
...  
Keyword(s):  
Genetic Similarity ◽  
Molecular Genetic ◽  
Live Weight ◽  
Molecular Genetic Analysis ◽  
Pcr Analysis ◽  
Dna Diagnosis ◽  
Genetic Characteristics ◽  
High Productivity ◽  
The Republic ◽  
Cast Gene

The use of genetic markers in addition to traditional methods of animal selection with desirable genotypes allows to increase the share of animals with high productivity in the next generations and ensures improvement of breeding efficiency. Genetic features of the Prikatun type of the Gorno-Altay semi-fine wool breed of sheep and the white downy goat breed in the Republic of Altay were studied by the method of immunogenetic and molecular genetic analysis. The frequency of antigenic factors was identified and the index of genetic similarity between goats and sheep and their separate herds was calculated. Gene polymorphism of β-lactoglobulin (BLG) and calpastatin (CAST) was revealed by the method of DNA diagnosis. Population and genetic characteristics of the herds was studied by the genes specified. Associative genotype relation to productivity and quality of the produce obtained was analyzed. The index of genetic similarity between the goats and the sheep was at the level of 0.713, between the separate herds of the goats the index was 0.861. The ratio of genotypes in the BLG gene determined by PCR analysis in the white downy goats was S1S1– 16.1%; S1S2– 50.6%; S2S2– 33.3%. In the Prikatun type two genotypes were identified in this gene: BB with the frequency of 59.2%, and AB – 40.8%. Two different alleles were identified in the CAST gene of sheep (M and N). The genotype MM was the predominant variant in the CAST sheep gene, whose frequency was 88%. The frequency of occurrence of animals with NN genotype was 1%, MN – 11%. It was shown that the gene equilibrium in the herds was not broken, χ2= 0.931. It was noted that heterozygous goats (S1S2) by BLG gene had a higher live weight by 0.30-0.61 kg compared to other variants of BLG gene (p<0.05). It was also found that lambs with genotype MM of the CAST gene had a higher live weight by 5.5 kg than MN heterozygotes (p< 0.01). However, this difference was not revealed in other age and sex groups of animals.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

2020 ◽  
Vol 98 (6) ◽  
pp. 548-554
Author(s):  
Dana Safka Brozkova ◽  
Simona Poisson Marková ◽  
Anna Uhrová Mészárosová ◽  
Ján Jenčík ◽  
Vlasta Čejnová ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Mutations ◽  
Gene Panel ◽  
Gjb2 Gene ◽  
Whole Exome ◽  
Syndromic Hearing Loss

scholarly journals Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

2019 ◽  
Vol 8 (2) ◽  
pp. 420
Author(s):  
Esma Sarıkaya ◽  
Aytekin Tokmak ◽  
Esra Şükran Çakar ◽  
Gürhan Güney ◽  
Neslihan Düzkale ◽  
...  
Keyword(s):  
Polymerase Chain Reaction Amplification ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Ovarian Failure ◽  
Lymphocyte Culture ◽  
Fmr1 Gene ◽  
Newly Diagnosed ◽  
Turkish Women ◽  
Fmr1 Premutation

Background: One of the known causes of ovarian dysfunction is fragile X mental retardation gene 1 (FMR1) premutation. The prevalence of FMR1 premutation in primary ovarian failure (POF) cases may differ between the studies due to some reasons including POF definition, definition of premutation, and determination of study population, ethnicity, genetic and environmental factors. In this study authors aimed to determine the prevalence of FMR1 mutations in patients who applied to present clinic and diagnosed as POF.Methods: This retrospective cohort study was conducted on 200 women who had been newly diagnosed with POF in present clinic between 2013 and 2014. The presence of cytogenetic fragility was firstly investigated in all patients by using the lymphocyte culture method, and molecular analysis of the FMR1 gene was then performed. Genomic DNA’s of cases were isolated using standard protocols, followed by polymerase chain reaction amplification with an appropriate program. Fragment analysis of the amplification products were performed by agarose gel electrophoresis.Results: Cytogenetic analysis results in 200 cases were numerically and structurally normal in all patients, and as a result of molecular genetic analysis of FMR1 gene; 1 (0.5%) patient had complete mutation and 9 (4.5%) patients had premutation carriage.Conclusions: FMR1 gene mutations are common in women with POF. These mutations should be investigated in all patients presenting with POF, particularly in cases with early onset and family history of POF, and also genetic counseling should be given to those patients.

scholarly journals Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

2020 ◽  
Author(s):  
Fatemeh Khadangi ◽  
Adam Torkamanzehi ◽  
Mohammad Amin Kerachian
Keyword(s):  
Kidney Disease ◽  
Genetic Analysis ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney ◽  
Iranian Patients

Abstract Background: Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the imaging diagnosis is uncertain, particularly in simplex cases (i.e., a single occurrence in a family), in people with remarkably mild symptoms, or in individuals with atypical presentations. The main aim of this study is to determine the frequency of PKD1 gene mutations in Iranian patients with ADPKD diagnosis. Methods: Genomic DNA was extracted from blood samples from 22 ADPKD patients, who were referred to the Qaem Hospital in Mashhad, Iran. By using appropriate primers, 16 end exons of PKD1 gene that are regional hotspots, were replicated with PCR. Then, PCR products were subjected to DNA directional Sanger sequencing. Results: The DNA sequencing in the patients has shown that exons 35, 36 and 37 were non- polymorphic, and that most mutations had occurred in exons 44 and 45. In two patients, an exon-intron boundary mutation had occurred in intron 44. Most of the variants were missense and non-synonymous types. Conclusion: In the present study, we have shown the occurrence of nine novel missense or synonymous variants in PKD1 gene. These data could contribute to an improved diagnostic and genetic counseling in clinical settings.

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