scholarly journals A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

2016 ◽  
pp. 45-52 ◽  
Author(s):  
Berardino Porfirio ◽  
Roberta Sestini ◽  
Greta Gorelli ◽  
Miriam Cordovana ◽  
Alessandro Mannoni ◽  
...  
Keyword(s):  
Founder Effect

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidenceof a founder effect

2018 ◽  
Author(s):  
Dorra Ghorbel ◽  
Faten Hadjkacem ◽  
Fatma Mnif ◽  
Fatma Loukil ◽  
Mouna Mnif ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease

2021 ◽  
Author(s):  
Shilpan G. Patel ◽  
Christina M. Buchanan ◽  
Eoin Mulroy ◽  
Mark Simpson ◽  
Hannah A. Reid ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Founder Effect ◽  
Early Onset ◽  
Early Onset Parkinson’S Disease

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies

scholarly journals Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  
Keyword(s):  
Geographical Distribution ◽  
Founder Effect ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Specific Distribution ◽  
The Common

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.

scholarly journals Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Muhammad Muzammal ◽  
Muhammad Zubair ◽  
Sophie Bierbaumer ◽  
Jasmin Blatterer ◽  
Ricarda Graf ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Founder Effect ◽  
Pakistani Families ◽  
Exome Sequence

Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

2009 ◽  
Vol 454 (2) ◽  
pp. 157-160 ◽  
Author(s):  
Luis Velázquez Pérez ◽  
Gilberto Sánchez Cruz ◽  
Nieves Santos Falcón ◽  
Luis Enrique Almaguer Mederos ◽  
Karel Escalona Batallan ◽  
...  
Keyword(s):  
Molecular Epidemiology ◽  
Founder Effect ◽  
Spinocerebellar Ataxias

scholarly journals The Sex Determination Gene Shows No Founder Effect in the Giant Honey Bee, Apis dorsata

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34436 ◽  
Author(s):  
Zhi Yong Liu ◽  
Zi Long Wang ◽  
Wei Yu Yan ◽  
Xiao Bo Wu ◽  
Zhi Jiang Zeng ◽  
...  
Keyword(s):  
Sex Determination ◽  
Honey Bee ◽  
Founder Effect ◽  
Apis Dorsata
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