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

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.

Download Full-text

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

International Journal of Dermatology ◽

10.1111/ijd.14952 ◽

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

Download Full-text

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

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.15_suppl.1522 ◽

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

Download Full-text

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 ◽

10.3390/genes11070833 ◽

2020 ◽

Vol 11 (7) ◽

pp. 833 ◽

Cited By ~ 2

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.

Download Full-text

Bioelectronic Measurement of Nasality in Trainable Mentally Retarded Children

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.4203.436 ◽

1977 ◽

Vol 42 (3) ◽

pp. 436-439 ◽

Cited By ~ 2

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.

Download Full-text

Multiple Perspectives on the Barriers to Identification and Management of Pediatric Voice Disorders

Perspectives of the ASHA Special Interest Groups ◽

10.1044/persp2.sig3.49 ◽

2017 ◽

Vol 2 (3) ◽

pp. 49-56

Author(s):

Jana Childes ◽

Alissa Acker ◽

Dana Collins

Keyword(s):

Academic Success ◽

Voice Disorders ◽

School Personnel ◽

Voice Disorder ◽

Multiple Perspectives ◽

Vocal Qualities ◽

High Prevalence ◽

Pediatric Populations ◽

Low Incidence ◽

University Settings

Pediatric voice disorders are typically a low-incidence population in the average caseload of clinicians working within school and general clinic settings. This occurs despite evidence of a fairly high prevalence of childhood voice disorders and the multiple impacts the voice disorder may have on a child's social development, the perception of the child by others, and the child's academic success. There are multiple barriers that affect the identification of children with abnormal vocal qualities and their access to services. These include: the reliance on school personnel, the ability of parents and caretakers to identify abnormal vocal qualities and signs of misuse, the access to specialized medical services for appropriate diagnosis, and treatment planning and issues related to the Speech-Language Pathologists' perception of their skills and competence regarding voice management for pediatric populations. These barriers and possible solutions to them are discussed with perspectives from the school, clinic and university settings.

Download Full-text