Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience

2014 ◽  
Vol 51 (3) ◽  
pp. 271-279 ◽  
Author(s):  
Raelia M Lew ◽  
Leslie Burnett ◽  
Anné L Proos ◽  
Kristine Barlow-Stewart ◽  
Martin B Delatycki ◽  
...  
Keyword(s):  
Jewish Population ◽  
Population Screening ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population ◽  
Tay Sachs Disease ◽  
Australian Experience

scholarly journals The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

2001 ◽  
Vol 119 (4) ◽  
pp. 146-149 ◽  
Author(s):  
Roberto Rozenberg ◽  
Lygia da Veiga Pereira
Keyword(s):  
Carrier Frequency ◽  
Jewish Population ◽  
Screening Program ◽  
Disease Incidence ◽  
Carrier Screening ◽  
Restriction Enzyme Digestion ◽  
Ashkenazi Jewish ◽  
Screening Programs ◽  
Ashkenazi Jewish Population ◽  
Tay Sachs Disease

CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

scholarly journals Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

1991 ◽  
Vol 28 (3) ◽  
pp. 177-180 ◽  
Author(s):  
E C Landels ◽  
I H Ellis ◽  
A H Fensom ◽  
P M Green ◽  
M Bobrow
Keyword(s):  
Jewish Population ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population ◽  
Tay Sachs Disease ◽  
The Uk ◽  
Insertion Mutations

scholarly journals Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

2016 ◽  
Vol 91 (4) ◽  
pp. 599-604 ◽  
Author(s):  
L. Shi ◽  
B.D. Webb ◽  
A.H. Birch ◽  
L. Elkhoury ◽  
J. McCarthy ◽  
...  
Keyword(s):  
Jewish Population ◽  
Recurrent Disease ◽  
Population Screening ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population

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.

scholarly journals Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

2016 ◽  
Vol Volume 9 ◽  
pp. 141-146 ◽  
Author(s):  
Bryn Webb ◽  
Anastasia Fedick ◽  
Chaim Jalas ◽  
Ananya Swaroop ◽  
Eric Smouha
Keyword(s):  
Hearing Loss ◽  
High Frequency ◽  
Jewish Population ◽  
Ashkenazi Jewish ◽  
Nonsyndromic Hearing Loss ◽  
Ashkenazi Jewish Population

scholarly journals A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

2011 ◽  
Vol 13 (7) ◽  
pp. 662-666 ◽  
Author(s):  
Carol J Gallione ◽  
Ann Solatycki ◽  
Issam A Awad ◽  
James L Weber ◽  
Douglas A Marchuk
Keyword(s):  
Rna Splicing ◽  
Messenger Rna ◽  
Jewish Population ◽  
Founder Mutation ◽  
Cerebral Cavernous Malformations ◽  
Ashkenazi Jewish ◽  
Cavernous Malformations ◽  
Ashkenazi Jewish Population

scholarly journals A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population

2018 ◽  
Vol 63 (11) ◽  
pp. 3049-3057 ◽  
Author(s):  
Elena R. Schiff ◽  
Matthew Frampton ◽  
Francesca Semplici ◽  
Stuart L. Bloom ◽  
Sara A. McCartney ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Jewish Population ◽  
Familial Risk ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population ◽  
Inflammatory Bowel ◽  
New Look

scholarly journals Attitude towards and factors affecting uptake of population‐based BRCA testing in the Ashkenazi Jewish population: a cohort study

2019 ◽  
Vol 126 (6) ◽  
pp. 784-794 ◽  
Author(s):  
R Manchanda ◽  
M Burnell ◽  
F Gaba ◽  
S Sanderson ◽  
K Loggenberg ◽  
...  
Keyword(s):  
Cohort Study ◽  
Jewish Population ◽  
Population Based ◽  
Ashkenazi Jewish ◽  
Brca Testing ◽  
Factors Affecting ◽  
Ashkenazi Jewish Population
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