Tay-Sachs disease andHEXA mutations among Moroccan Jews

G) substitution, resulting in exon skipping, and it was found only among enzyme-defined carriers. The seven HEXA identified mutations among Moroccan Jews are: deltaF(304/305), R170Q, IVS-2(A-->G), Y180X, E482K, 1278+TATC, and IVS12+1(G-->C). Their respective distribution among 51 unrelated enzyme-defined and obligate carriers is 22:19:6:1:1:1:1. The mutation(s) remain unknown in only three enzyme-defined carriers. Five of the seven Moroccan mutations, including the three most common ones, were not found among Ashkenazi Jews. Compared with the much larger and relatively homogeneous Ashkenazi population, the finding among Moroccan Jews probably reflects their much longer history. -->
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::217ca6db4a39b7bd64d332a3279ec463
https://doi.org/10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........217ca6db4a39b7bd64d332a3279ec463
Autor: Avinoam Adam, M. Karpati, Ruth Navon, Michal Kaufman, Boleslaw Goldman, Lea Peleg, Edna Akstein, Julia Grinshpun-Cohen
Rok vydání: 1997
Předmět:
Zdroj: Human Mutation. 10:295-300
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g
Popis: Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defined and new obilgate TSD carriers, we found four additional mutations. One of them is a novel, IVS5-2(A-->G) substitution, resulting in exon skipping, and it was found only among enzyme-defined carriers. The seven HEXA identified mutations among Moroccan Jews are: deltaF(304/305), R170Q, IVS-2(A-->G), Y180X, E482K, 1278+TATC, and IVS12+1(G-->C). Their respective distribution among 51 unrelated enzyme-defined and obligate carriers is 22:19:6:1:1:1:1. The mutation(s) remain unknown in only three enzyme-defined carriers. Five of the seven Moroccan mutations, including the three most common ones, were not found among Ashkenazi Jews. Compared with the much larger and relatively homogeneous Ashkenazi population, the finding among Moroccan Jews probably reflects their much longer history.
Databáze: OpenAIRE
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