scholarly journals Genetic examination of children with hearing impairment in the astrakhan region

2020 ◽  
Vol 19 (5) ◽  
pp. 44-50
Author(s):  
E. A. Grigor’eva ◽  
◽  
E. A. Ivanova ◽  
T. G. Markova ◽  
S. S. Chibisova ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Russian Federation ◽  
Single Gene ◽  
Gene Mutations ◽  
Ethnic Composition ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Recessive Mutations ◽  
Genetic Examination ◽  
The Russian Federation

To study the prevalence of mutations in the GJB2 gene in deaf and deaf children in the Astrakhan region and compare them with the frequency of mutations in children with hearing impairment living in other regions of the Russian Federation taking into account regional characteristics. This work describes the results of epidemiological, audiological analysis, medical and genetic examination of children. We examined 6 frequent recessive mutations in the GJB2 gene in a group of 79 hearing impaired children registered with the Regional Center for Hearing Rehabilitation. Mutations were detected in 36 children (46%), with two mutations found only in 18 children (23%), and another 18 children were carriers of the same mutation. In 9 children (11.5%), the 35 delG mutation was detected in the homozygous state and in 9 children (11.5%) in the compound heterozygous state with a different mutation. We have shown that the results obtained do not correspond to the high prevalence of gene mutations (more than 50%) in groups of children with hearing impairment, established in most regions of the Russian Federation, as well as in several countries in Europe, China and Japan. The large number of carriers of a single gene mutation indicates the need to study the entire gene sequence and may be a consequence of the mixed ethnic composition of the subjects.

scholarly journals Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

2009 ◽  
Vol 63 (4-5) ◽  
pp. 198-203
Author(s):  
Olga Šterna ◽  
Natālija Proņina ◽  
Ieva Grīnfelde ◽  
Sandra Kušķe ◽  
Astrīda Krūmiņa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Profound Hearing Loss ◽  
Common Cause ◽  
Gjb2 Mutation ◽  
35Delg Mutation

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

scholarly journals Specific Features and Patterns of Conceptualizing the Emotions and Feelings in Sign Language (the Case of the Regional Variant of the Russian Sign Language in the Republic of Khakassia)

2020 ◽  
pp. 1927-1936
Author(s):  
Oksana V. Magirovskaya ◽  
Ekaterina S. Privalikhina ◽  
Violetta S. Srmikian
Keyword(s):  
Sign Language ◽  
Hearing Impairment ◽  
Russian Federation ◽  
Social Group ◽  
Social Adaptation ◽  
Deaf People ◽  
Basic Pattern ◽  
Semiotic System ◽  
The Russian Federation ◽  
The Republic

The article presents a cognitive view on sign language. It is the first to analyze the sign language in the Republic of Khakassia, one of the regional variants of the Russian sign language which requires serious scientific research, detailed linguistic analysis and, as a further step, its official documentation. The article describes the specific features of sign conceptualization as conceptualization by a special semiotic system that functions as a language of communication for a social group of deaf people and people with hearing impairment. The key patterns of conceptualizing the emotions and feelings are specified; the basic pattern of conceptualization is claimed. The revealed specificity of conceptualizing the category of emotions and feelings in the sign language in Khakassia raises the issue of an urgent need for further research of both this regional variant of the Russian sign language and other regional variants of the Russian Federation. This, in turn, will favour the linguistic descriptions of sign language and the use of these descriptions to solve many issues related to successful social adaptation of deaf people and people with hearing impairment

scholarly journals Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene

2021 ◽  
pp. 98-98
Author(s):  
Bojana Dobric ◽  
Danijela Radivojevic ◽  
Jovana Jecmenica ◽  
Vassos Neocleous ◽  
Pavlos Fanis ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Phenotype Correlation ◽  
Pathogenic Variants ◽  
Environmental Causes ◽  
35Delg Mutation

Introduction/Objective. Hearing impairment (HI) is the most common sensorineural disorder with an incidence of 1/700-1000 newborns. Variants in the GJB2 gene are the major cause of autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL). The degree of HI in patients with detected mutations in GJB2 gene ranges from mild to profound. The aim of this study was to determine possible genotype-phenotype association between audiometric characteristics and detected genotypes in ARNSHL patients from Serbia. Methods. Ninety-two patients with ARNSHL underwent genetic analysis with PCR-ARMS and sequencing of the GJB2 gene. Audiological analyses were obtained in all patients using a combination of several methods to estimate the degree of hearing loss. Results. Audiological analysis performed in the 92 probands showed moderate to profound range of hearing loss. All identified pathogenic variants accounted for 42.39% of the mutant alleles (78/184 alleles), with the c.35delG mutation being the most frequent (30.43%). Genotype-phenotype correlation in an isolated group of 37 patients bearing c.35delG in the homozygous, compound heterozygous or heterozygous state. In this group the majority of patients (30/37, 81.08%) exhibited severe to profound hearing deficit. Conclusion. Association between genotype and the degree of hearing impairment in patients analyzed in this study demonstrated that patients with bi-allelic truncating mutations i.e. c.35delG, associate with the more severe hearing loss when compared with those identified with only one affected allele. The various degrees of hearing impairment observed in heterozygous patients could be explained by the presence of an undetected second mutation or other modifier genes or environmental causes.

scholarly journals USSR and Zanzibar in the Years of Its Struggle for Independence and Unification with Tanganyika (Based on Archival Sources)

2020 ◽  
Vol 20 (1) ◽  
pp. 54-66
Author(s):  
Alexander Stepanovich Balezin
Keyword(s):  
Russian Federation ◽  
The United States ◽  
Political Orientation ◽  
Ethnic Composition ◽  
State Archive ◽  
The Usa ◽  
History Of ◽  
The Russian Federation ◽  
Political Act ◽  
Political Spectrum

Based on documents from the Russian archives - the Archive of foreign policy of the Russian Federation, the State archive of the Russian Federation, and the Russian state archive of modern history, the article examines the relations of the USSR with Zanzibar in the late 1950s and early 1960s. Soviet-Zanzibar relations are examined against the background of a complex period in the history of the island state, which included the stages of inter-party rivalry during the struggle for independence, the Zanzibar revolution itself, and the unification with Tanganyika. The author also draws attention to the ethnic composition of the Zanzibar population in the years before the start of the national liberation movement, the history of the origin of ethnic groups in the archipelago and their traditional relationships. The author examines in detail the composition and political orientation of the parties that took part in the struggle for independence. He also considers the influence of the political spectrum and the international situation of the Cold War period on the decisions of national leaders in choosing a support side for further development. The author also considers actions of two leading actors of the bipolar system, the USSR and the USA, in the struggle for influence on the young national elites of Zanzibar in particular, and then Tanzania as a whole. The author conducts a detailed analysis of the United States actions and its allies to intervene the party struggle within Zanzibar society and the further reaction of the USSR to these steps. He also considers the reasons for the decline in Soviet influence on Zanzibar and the events that led to the closure of the Soviet diplomatic missions. The author points out the ambiguity of Zanzibar and Tanganyika’s unification, which could be perceived as an artificial political act supported by interested global forces than the process of voluntary unification of the two young countries. A number of issues are considered almost for the first time in Russian historiography.

scholarly journals Steroid Resistant Nephrotic Syndrome-Genetic Consideration

PRILOZI ◽  
2015 ◽  
Vol 36 (3) ◽  
pp. 5-12
Author(s):  
Velibor Tasic ◽  
Zoran Gucev ◽  
Momir Polenakovic
Keyword(s):  
Nephrotic Syndrome ◽  
Coenzyme Q10 ◽  
Single Gene ◽  
Gene Mutations ◽  
Diagnostic Techniques ◽  
Dominant Mode ◽  
Kidney Graft ◽  
Steroid Resistant ◽  
Recessive Mutations ◽  
Mode Of Inheritance

Abstract Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. It is separated to steroid-sensitive or steroid-resistant (SRNS) forms in respect to the response to intensive steroid therapy. SRNS usually progresses to end-stage renal failure. According to the North American Pediatric Renal Trials and Collaborative Studies SRNS constitutes the second most frequent cause of ESRD in the first two decades of life. Unfortunately, there is no curative treatment for majority of patients. Majority of the SRNS patients have the histologic picture of focal segmental glomerulosclerosis. Interestingly, the risk of recurrence in the kidney graft in patients with hereditary SRNS is lower than in those who do not have genetic background. The etiology and pathogenesis of SRSN has remained enigma for decades. The discovery of 39 dominant or recessive SRNS genes enabled better understanding of the function of the glomerular podocytes and slit membrane. Hildebrandt′s group has shown that 85% of the SRNS cases with onset by 3 months of age and 66% with onset by 1 year of age can be explained by recessive mutations in one of four genes only (NPHS1, NPHS2, LAMB2, or WT1). The same group used modern diagnostic techniques such as the next generation sequencing and tested a large international cohort of SRNS patients (n = 1783 families). The diagnostic panel included 21 genes with a recessive mode of inheritance and 6 genes with a dominant mode of inheritance. Single-gene cause was detected in 29.5% (526 of 1783) of the families with SRNS that manifested before 25 years of age. The identification of causative single-gene mutations may have important therapeutic consequences in some cases. This is very important for patients who carry mutations in a gene of coenzyme Q10 biosynthesis (COQ2, COQ6, ADCK4, or PDSS2). In these patients the treatment with coenzyme Q10 may be indicated. Also, patients with recessive mutations in PLCE1 may respond fully to the treatment with steroids or cyclosporine A. The patients with CUBN may benefit the treatment with vitamin B12. The detection of causative mutations may also be very important for familial genetic counseling and for prenatal diagnosis.

scholarly journals Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation

2021 ◽  
Vol 12 ◽  
Author(s):  
Nika Petrova ◽  
Natalia Balinova ◽  
Andrey Marakhonov ◽  
Tatyana Vasilyeva ◽  
Nataliya Kashirskaya ◽  
...  
Keyword(s):  
Ethnic Groups ◽  
Russian Federation ◽  
Gene Mutations ◽  
Ural Region ◽  
Monogenic Disease ◽  
Healthy Population ◽  
The North ◽  
Pathogenic Variants ◽  
The Russian Federation ◽  
Volga Ural Region

Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the CFTR gene. The distribution and frequency of CFTR variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the CFTR gene was previously studied in more than 1,500 CF patients from different regions of the European and North Caucasian region of Russia and the spectrum of the most frequent pathogenic variants of the CFTR gene and ethnic features of their distribution were determined. To assess the population frequency of CFTR gene mutations some of the common variants were analyzed in the samples of healthy unrelated individuals from the populations of the European part of the Russian Federation: 1,324 Russians from four European regions (Pskov, Tver, Rostov, and Kirov regions), representatives of five indigenous ethnic groups of the Volga-Ural region [Mari (n = 505), Udmurts (n = 613), Chuvash (n = 780), Tatars (n = 704), Bashkirs (n = 517)], and six ethnic groups of the North Caucasus [Karachay (n = 324), Nogais (n = 118), Circassians (n = 102), Abazins (n = 128), Ossetians (n = 310), and Chechens (n = 100)]. The frequency of common CFTR mutations was established in studied ethnic groups. The frequency of F508del mutation in Russians was found to be 0.0056 on average, varying between four regions, from 0.0027 in the Pskov region to 0.0069 in the Rostov region. Three variants W1282X, 1677delTA, and F508del were identified in the samples from the North Caucasian populations: in Karachay, the frequency of W1282X mutation was 0.0092, 1677delTA mutation – 0.0032; W1282X mutation in the Nogais sample – 0.0127, the frequency of F508del mutations was 0.0098 and 1677delTA – 0.0098 in Circassians; in Abazins F508del (0.0039), W1282X (0.0039) and 1677delTA (0.0117) mutations were found. In the indigenous peoples of the Volga-Ural region, the maximum frequency of the F508del mutation was detected in the Tatar population (0.099), while this mutation was never detected in the Mari and Bashkir populations. The E92K variant was found in Chuvash and Tatar populations. Thus, interethnic differences in the spectra of CFTR gene variants were shown both in CF patients and in healthy population of the European and North Caucasian part of Russia.

scholarly journals Identification of a cryptic lethal mutation in the mouse tw73 haplotype

2004 ◽  
Vol 84 (3) ◽  
pp. 153-159 ◽  
Author(s):  
GARETH R. HOWELL ◽  
REBECCA A. BERGSTROM ◽  
ROBERT J. MUNROE ◽  
JESSICA MASSE ◽  
JOHN C. SCHIMENTI
Keyword(s):  
Novel Mutation ◽  
Single Gene ◽  
Gene Mutations ◽  
Lethal Mutation ◽  
Transmission Ratio Distortion ◽  
Chromosome 17 ◽  
Recombination Suppression ◽  
Recessive Mutations ◽  
Ratio Distortion ◽  
Complementation Groups

t haplotypes are naturally occurring, variant forms of the t complex on mouse chromosome 17, characterized by the presence of four inversions with respect to wild-type. They harbour mutations causing male sterility, male transmission ratio distortion (TRD) and embryonic lethality. Mice carrying t haplotypes have been found throughout the world, and genetic studies of the lethal mutations have identified at least 16 complementation groups. The embryonic lethal phenotypes of many t haplotypes have been characterized in detail, and are thought to be the consequence of homozygosity for single gene mutations. However, the existence of additional mutations in genes that function at later stages of development would be obscured. Here we investigated the possibility of multiple mutations in t haplotypes by screening the tw73 haplotype for the presence of novel mutations. Since genetic analysis of t haplotype mutations is hindered by recombination suppression due to the inversions, deletion complexes covering the proximal two-thirds of the t complex were used to uncover the presence of any new lethal alleles. This analysis revealed a novel mutation between D17Jcs41 and D17Mit100, causing mice carrying both tw73 and selected deletions to die at birth, prior to feeding. The finding of a new, cryptic lethal mutation in t haplotypes is an indication that these recombinationally isolated chromosomes, which already contain at least one lethal mutation that prevents homozygosity, may serve as sinks for the accumulation of additional recessive mutations.

scholarly journals Russian-Speaking Population in Far-Abroad Countries

2021 ◽  
Vol 14 (5) ◽  
pp. 81-100
Author(s):  
S. V. Ryazantsev ◽  
E. E. Pismennaya ◽  
G. N. Ochirova
Keyword(s):  
Russian Federation ◽  
Economic Status ◽  
Ethnic Composition ◽  
Foreign Affairs ◽  
Heterogeneous Structure ◽  
Sports Events ◽  
Foreign Countries ◽  
Survey Results ◽  
The Russian Federation ◽  
Definition Of

Attracting compatriots living abroad is strategically vital in the context of continuing depopulation in Russia. However, a multilayered definition of the category of a compatriot creates blurred boundaries. As a result, it is somewhat problematic to assess the number of Russian compatriots living abroad objectively. The paper presents the results of a study of the socio-demographic structure of the Russian-speaking population in far-abroad countries. The statistical data of Rosstat, the UN, Eurostat, OECD, and national statistical services of foreign countries were analyzed to assess the number of Russian-speaking populations and determine the main emigration channels and geography of resettlement. Within the study, the authors have conducted an expert survey of the Ministry of Foreign Affairs of the Russian Federation, the Embassies of the Russian Federation, and representative offices of Rossotrudnichestvo in foreign countries. The survey results indicate the heterogeneous structure of Russian-speaking communities by reasons of emigration, socio-economic status, degree of integration into the host society, gender, and ethnic composition, and geography of resettlement. However, state policy analysis towards compatriots shows that it targets people who already demonstrate an interest in Russia, participate in Russian-speaking organizations, and get involved in cultural, religious, and sports events. There is a need for cooperation and interaction with Russian-speaking people. Moreover, given that young people adapt and get integrated more efficiently, it is essential to prevent the loss of cultural capital of Russian-speaking youth living abroad. It is necessary to develop and implement a more differentiated approach towards interaction with the Russian-speaking population.

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome

2019 ◽  
Vol 32 (4) ◽  
pp. 283-292 ◽  
Author(s):  
Sou Niitsuma ◽  
Hiroki Kudo ◽  
Atsuo Kikuchi ◽  
Takaya Hayashi ◽  
Satoshi Kumakura ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Mononuclear Cells ◽  
Single Gene ◽  
Interleukin 1 ◽  
Gene Mutations ◽  
Suppressor Cells ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Peripheral Blood Mononuclear ◽  
Steroid Sensitive

Abstract Nephrotic syndrome (NS) is a renal disease characterized by severe proteinuria and hypoproteinemia. Although several single-gene mutations have been associated with steroid-resistant NS, causative genes for steroid-sensitive NS (SSNS) have not been clarified. While seeking to identify causative genes associated with SSNS by whole-exome sequencing, we found compound heterozygous variants/mutations (c.524T>C; p.I175T and c.662G>A; p.R221H) of the interleukin-1 receptor accessory protein (IL1RAP) gene in two siblings with SSNS. The siblings’ parents are healthy, and each parent carries a different heterozygous IL1RAP variant/mutation. Since IL1RAP is a critical subunit of the functional interleukin-1 receptor (IL-1R), we investigated the effect of these variants on IL-1R subunit function. When stimulated with IL-1β, peripheral blood mononuclear cells from the siblings with SSNS produced markedly lower levels of cytokines compared with cells from healthy family members. Moreover, IL-1R with a variant IL1RAP subunit, reconstituted on a hematopoietic cell line, had impaired binding ability and low reactivity to IL-1β. Thus, the amino acid substitutions in IL1RAP found in these NS patients are dysfunctional variants/mutations. Furthermore, in the kidney of Il1rap−/− mice, the number of myeloid-derived suppressor cells, which require IL-1β for their differentiation, was markedly reduced although these mice did not show significantly increased proteinuria in acute nephrotic injury with lipopolysaccharide treatment. Together, these results identify two IL1RAP variants/mutations in humans for the first time and suggest that IL1RAP might be a causative gene for familial NS.

Sign in / Sign up

Export Citation Format

Share Document