Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

2014 ◽  
Vol 78 (3) ◽  
pp. 155-164 ◽  
Author(s):  
Srinivasan Sakthivel ◽  
Andrea Zatkova ◽  
Martina Nemethova ◽  
Milan Surovy ◽  
Ludevit Kadasi ◽  
...  
Keyword(s):  
Founder Effect ◽  
Mutation Screening ◽  
High Prevalence

scholarly journals High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population

Diabetologia ◽  
1996 ◽  
Vol 39 (11) ◽  
pp. 1325-1328 ◽  
Author(s):  
P. J. Saker ◽  
A. T. Hattersley ◽  
B. Barrow ◽  
M. S. Hammersley ◽  
J.-A. McLellan ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Founder Effect ◽  
Local Population ◽  
Diabetic Patients ◽  
Glucokinase Gene ◽  
High Prevalence

C0384: High Prevalence of Antithrombin Budapest 3 Mutation in Hungary, Investigation of Founder Effect

2014 ◽  
Vol 133 ◽  
pp. S11-S12
Author(s):  
R. Gindele ◽  
M. Speker ◽  
Á. Udvari ◽  
Z. Oláh ◽  
G. Pfliegler ◽  
...  
Keyword(s):  
Founder Effect ◽  
High Prevalence

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

2001 ◽  
Vol 109 (5) ◽  
pp. 498-502 ◽  
Author(s):  
Dawn Thiselton ◽  
Christiane Alexander ◽  
Simon Brooks ◽  
Thomas Rosenberg ◽  
Hans Eiberg ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Founder Effect ◽  
Frameshift Mutation ◽  
Danish Population ◽  
Dominant Optic Atrophy ◽  
High Prevalence ◽  
Opa1 Gene

scholarly journals The rise and spread of the SARS-CoV-2 AY.122 lineage in Russia

2021 ◽  
Author(s):  
Galya V. Klink ◽  
Ksenia Safina ◽  
Elena Nabieva ◽  
Nikita Shvyrev ◽  
Sofya Garushyants ◽  
...  
Keyword(s):  
Founder Effect ◽  
Genetic Evidence ◽  
Genetic Composition ◽  
Subsequent Evolution ◽  
High Prevalence

AbstractBackgroundDelta has outcompeted most preexisting variants of SARS-CoV-2, becoming the globally predominant lineage by mid-2021. Its subsequent evolution has led to emergence of multiple sublineages, many of which are well-mixed between countries.AimHere, we aim to study the emergence and spread of the Delta lineage in Russia.MethodsWe use a phylogeographic approach to infer imports of Delta sublineages into Russia, and phylodynamic models to assess the rate of their spread.ResultsWe show that nearly the entire Delta epidemic in Russia has probably descended from a single import event despite genetic evidence of multiple Delta imports. Indeed, over 90% of Delta samples in Russia are characterized by the nsp2:K81N+ORF7a:P45L pair of mutations which is rare outside Russia, putting them in the AY.122 sublineage. The AY.122 lineage was frequent in Russia among Delta samples from the start, and has not increased in frequency in other countries where it has been observed, suggesting that its high prevalence in Russia has probably resulted from a random founder effect.ConclusionThe apartness of the genetic composition of the Delta epidemic in Russia makes Russia somewhat unusual, although not exceptional, among other countries.

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect

2020 ◽  
Vol 59 (8) ◽  
pp. 969-977
Author(s):  
Manuel González‐Del Carmen ◽  
Sarita Montaño ◽  
Octavio D. Reyes‐Hernández ◽  
Pablo A. Vizcaíno‐Dorado ◽  
Norberto Leyva‐García ◽  
...  
Keyword(s):  
Founder Effect ◽  
Autosomal Recessive ◽  
Mexican Population ◽  
Epidemiological Evidence ◽  
New Mutation ◽  
Congenital Ichthyosis ◽  
High Prevalence ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Further Evidence of Mutational Heterogeneity of theXPCGene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Mariem Ben Rekaya ◽  
Manel Jerbi ◽  
Olfa Messaoud ◽  
Ahlem Sabrine Ben Brick ◽  
Mohamed Zghal ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Founder Effect ◽  
Xeroderma Pigmentosum ◽  
Direct Sequencing ◽  
Mutation Screening ◽  
Novel Mutations ◽  
Mutational Spectrum ◽  
Early Appearance ◽  
Southern Tunisia ◽  
Pathogenic Effect

Xeroderma Pigmentosum(XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage toXPCgene, genotyping and direct sequencing ofXPCgene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in theXPCgene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of theXPCmRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

Founder effect and a high prevalence of BRCA1 mutations among young Mexican triple-negative breast cancer (TNBC) patients.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 1522-1522
Author(s):  
Cynthia Mayte Villarreal-Garza ◽  
Jeffrey N. Weitzel ◽  
Erika Sifuentes ◽  
Marcia Llacuachaqui ◽  
Josef Herzog ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Founder Effect ◽  
Triple Negative ◽  
Brca1 Mutations ◽  
High Prevalence

scholarly journals High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 833 ◽  
Author(s):  
Marina V. Zytsar ◽  
Marita S. Bady-Khoo ◽  
Valeriia Yu. Danilchenko ◽  
Ekaterina A. Maslova ◽  
Nikolay A. Barashkov ◽  
...  
Keyword(s):  
Founder Effect ◽  
Transmembrane Protein ◽  
Indigenous Populations ◽  
Gjb2 Gene ◽  
Southern Siberia ◽  
C 23 ◽  
High Prevalence ◽  
Ethnic History ◽  
Single Marker ◽  
Gjb2 Mutations

The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.

Bioelectronic Measurement of Nasality in Trainable Mentally Retarded Children

1977 ◽  
Vol 42 (3) ◽  
pp. 436-439 ◽  
Author(s):  
David A. Daly
Keyword(s):  
Mentally Retarded ◽  
High Prevalence ◽  
Mentally Retarded Children ◽  
Trainable Mentally Retarded

Fifty trainable mentally retarded children were evaluated with TONAR II, a bioelectronic instrument for detecting and quantitatively measuring voice parameters. Results indicated that one-half of the children tested were hypernasal. The strikingly high prevalence of excessive nasality was contrasted with results obtained from 64 nonretarded children and 50 educable retarded children tested with the same instrument. The study demonstrated the need of retarded persons for improved voice and resonance.

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