A founder mutation inCOL4A3causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

2013 ◽  
Vol 86 (2) ◽  
pp. 155-160 ◽  
Author(s):  
B.D. Webb ◽  
T. Brandt ◽  
L. Liu ◽  
C. Jalas ◽  
J. Liao ◽  
...  
Keyword(s):  
Jewish Population ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Founder Mutation ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population

2011 ◽  
Vol 47 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Chaim Jalas ◽  
Sylvia L. Anderson ◽  
Tova Laufer ◽  
Kristina Martimucci ◽  
Alex Bulanov ◽  
...  
Keyword(s):  
Jewish Population ◽  
Founder Mutation ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population

A founder mutation in theTCIRG1gene causes osteopetrosis in the Ashkenazi Jewish population

2014 ◽  
Vol 88 (1) ◽  
pp. 74-79 ◽  
Author(s):  
S.L. Anderson ◽  
C. Jalas ◽  
A. Fedick ◽  
K.F. Reid ◽  
T.O. Carpenter ◽  
...  
Keyword(s):  
Jewish Population ◽  
Founder Mutation ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population

α-Catulin maps to the familial dysautonomia region on 9q31

Genome ◽  
2001 ◽  
Vol 44 (6) ◽  
pp. 990-994
Author(s):  
Paula C Demacio ◽  
Peter N Ray
Keyword(s):  
Jewish Population ◽  
Autosomal Recessive ◽  
Familial Dysautonomia ◽  
Base Change ◽  
Candidate Region ◽  
Sequence Variant ◽  
Sequence Variants ◽  
Ashkenazi Jewish ◽  
Causative Gene ◽  
Ashkenazi Jewish Population

Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of α-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, α-catulin is unlikely to be the causative gene in this disease.Key words: familial dysautonomia, α-catulin, sequence variant.

Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population

2020 ◽  
pp. jmedgenet-2020-107181
Author(s):  
Zixin Qin ◽  
Cheong Nang Kuok ◽  
Hui Dong ◽  
Luhan Jiang ◽  
Li Zhang ◽  
...  
Keyword(s):  
Jewish Population ◽  
Founder Mutation ◽  
Developed Countries ◽  
Population Screening ◽  
Ashkenazi Jewish ◽  
Founder Mutations ◽  
Ashkenazi Jewish Population ◽  
Mutation Carriers ◽  
Testing Cost ◽  
Jewish Populations

BackgroundPathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence of three founder mutations, but not for non-Ashkenazi Jewish populations as the cost-effectiveness could be too low due to their lower mutation prevalence and lack of founder mutation. Population screening would not benefit the majority of the human population for BRCA mutation-related cancer prevention.MethodsWe used population BRCA screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and its BRCA mutation has not been analysed before.ResultsWe called BRCA variants, identified 18 carriers with 14 pathogenic mutations and determined the prevalence of 0.29% in the population (95% CI 0.15% to 0.42%). We compared the testing cost between the Ashkenazi Jewish population, the Sephardi Jewish population and the Macau population, and observed only a few fold differences.ConclusionOur study shows that testing cost is not the most important factor in considering population BRCA screening, at least for the populations in the developed countries/regions, regardless of the status of mutation prevalence and founder mutation.

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