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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

BACKGROUND: There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population freque...

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Autores principales: Zeevi, David A., Chung, Wendy K., Levi, Chaim, Scher, Sholem Y., Bringer, Rachel, Kahan, Yael, Muallem, Hagit, Benel, Rinat, Hirsch, Yoel, Weiden, Tzvi, Ekstein, Ahron, Ekstein, Josef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404236/
https://www.ncbi.nlm.nih.gov/pubmed/34288589
http://dx.doi.org/10.1002/mgg3.1756
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author Zeevi, David A.
Chung, Wendy K.
Levi, Chaim
Scher, Sholem Y.
Bringer, Rachel
Kahan, Yael
Muallem, Hagit
Benel, Rinat
Hirsch, Yoel
Weiden, Tzvi
Ekstein, Ahron
Ekstein, Josef
author_facet Zeevi, David A.
Chung, Wendy K.
Levi, Chaim
Scher, Sholem Y.
Bringer, Rachel
Kahan, Yael
Muallem, Hagit
Benel, Rinat
Hirsch, Yoel
Weiden, Tzvi
Ekstein, Ahron
Ekstein, Josef
author_sort Zeevi, David A.
collection PubMed
description BACKGROUND: There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 individuals with Syrian Jewish ancestry. METHODS: High throughput PCR amplicon sequencing was used to genotype 40 disease‐causing variants in 3840 and 5279 individuals of Syrian and Iranian Jewish ancestry, respectively. These data were compared with Ashkenazi Jewish carrier frequencies for the same variants, based on roughly 370,000 Ashkenazi Jewish individuals in the Dor Yeshorim database. RESULTS: Carrier screening identified pathogenic variants shared among Syrian, Iranian, and Ashkenazi Jewish groups. In addition, alleles unique to each group were identified. Importantly, 8.2% of 3401 individuals of mixed Syrian Jewish ancestry were carriers for at least one pathogenic variant. CONCLUSION: The findings of this study support the clinical usefulness of premarital genetic screening for individuals with Syrian Jewish ancestry to reduce the incidence of autosomal recessive disease among persons with Syrian Jewish heritage.
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spelling pubmed-84042362021-09-03 Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts Zeevi, David A. Chung, Wendy K. Levi, Chaim Scher, Sholem Y. Bringer, Rachel Kahan, Yael Muallem, Hagit Benel, Rinat Hirsch, Yoel Weiden, Tzvi Ekstein, Ahron Ekstein, Josef Mol Genet Genomic Med Original Articles BACKGROUND: There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 individuals with Syrian Jewish ancestry. METHODS: High throughput PCR amplicon sequencing was used to genotype 40 disease‐causing variants in 3840 and 5279 individuals of Syrian and Iranian Jewish ancestry, respectively. These data were compared with Ashkenazi Jewish carrier frequencies for the same variants, based on roughly 370,000 Ashkenazi Jewish individuals in the Dor Yeshorim database. RESULTS: Carrier screening identified pathogenic variants shared among Syrian, Iranian, and Ashkenazi Jewish groups. In addition, alleles unique to each group were identified. Importantly, 8.2% of 3401 individuals of mixed Syrian Jewish ancestry were carriers for at least one pathogenic variant. CONCLUSION: The findings of this study support the clinical usefulness of premarital genetic screening for individuals with Syrian Jewish ancestry to reduce the incidence of autosomal recessive disease among persons with Syrian Jewish heritage. John Wiley and Sons Inc. 2021-07-20 /pmc/articles/PMC8404236/ /pubmed/34288589 http://dx.doi.org/10.1002/mgg3.1756 Text en © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Zeevi, David A.
Chung, Wendy K.
Levi, Chaim
Scher, Sholem Y.
Bringer, Rachel
Kahan, Yael
Muallem, Hagit
Benel, Rinat
Hirsch, Yoel
Weiden, Tzvi
Ekstein, Ahron
Ekstein, Josef
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title_full Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title_fullStr Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title_full_unstemmed Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title_short Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
title_sort recommendation of premarital genetic screening in the syrian jewish community based on mutation carrier frequencies within syrian jewish cohorts
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404236/
https://www.ncbi.nlm.nih.gov/pubmed/34288589
http://dx.doi.org/10.1002/mgg3.1756
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