{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:32:24Z","timestamp":1777660344987,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2011,9,27]],"date-time":"2011-09-27T00:00:00Z","timestamp":1317081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p>\n                    Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases caused by homozygous deletion of exon 7 of the survival motor neuron 1 (\n                    <jats:italic toggle=\"yes\">SMN1<\/jats:italic>\n                    ) gene in approximately 95% of SMA patients. Carrier frequency studies of SMA have been reported for various populations. The aim of our study was to estimate the carrier frequency of the common\n                    <jats:italic toggle=\"yes\">SMN1<\/jats:italic>\n                    exon 7 deletion in the Moroccan population to achieve an insight into the prevalence of SMA in Morocco. In this study, we used a reliable quantitative real-time polymerase chain reaction assay with SYBR Green I dye to determine the copy number of the\n                    <jats:italic toggle=\"yes\">SMN1<\/jats:italic>\n                    gene. Analysis of 150 Moroccan newborns predicts a carrier frequency of approximately 1:25, which would mean a calculated SMA prevalence of 1:1800 after correction due to consanguinity. These results show as expected that the SMA carrier frequency in Morocco is higher than in the European populations and is close to those of Middle Eastern countries. Genetic carrier testing for genetic counseling should be recommended particularly to families with a clear clinical history of SMA.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2011.0149","type":"journal-article","created":{"date-parts":[[2011,9,27]],"date-time":"2011-09-27T23:31:06Z","timestamp":1317166266000},"page":"215-218","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":25,"title":["Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns"],"prefix":"10.1177","volume":"16","author":[{"given":"Jaber","family":"Lyahyai","sequence":"first","affiliation":[{"name":"Universit\u00e9 Mohamed V Souissi","place":["Morocco"]},{"name":"Institut National d'Hygi\u00e8ne","place":["Morocco"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aziza","family":"Sbiti","sequence":"additional","affiliation":[{"name":"Institut National d'Hygi\u00e8ne","place":["Morocco"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Barkat","sequence":"additional","affiliation":[{"name":"Centre National de R\u00e9f\u00e9rence en N\u00e9onatologie et en Nutrition","place":["Morocco"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilham","family":"Ratbi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Mohamed V Souissi","place":["Morocco"]},{"name":"Institut National d'Hygi\u00e8ne","place":["Morocco"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Mohamed V Souissi","place":["Morocco"]},{"name":"Institut National d'Hygi\u00e8ne","place":["Morocco"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,9,27]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.36.1.1","article-title":"Spinal muscular atrophy: untangling the knot?","volume":"36","author":"Biros I","year":"1999","unstructured":"Biros I, , Forrest S. 1999. Spinal muscular atrophy: untangling the knot? J Med Genet, 36:1-8.","journal-title":"J Med Genet"},{"key":"e_1_3_2_3_1","first-page":"1013","article-title":"Consanguinity and public health in Morocco","volume":"178","author":"Bouazzaoui N","year":"1994","unstructured":"Bouazzaoui N. 1994. Consanguinity and public health in Morocco. Bull Acad Natl Med, 178:1013-1025.","journal-title":"Bull Acad Natl Med"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410216"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02443058"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0164"},{"key":"e_1_3_2_7_1","first-page":"223","article-title":"Endogamy, isonymy and consanguinity in the region of the Gharb-Chrarda-B\u00e9ni Hssen (Morocco)","volume":"11","author":"Hami H","year":"2006","unstructured":"Hami H, , Soulaymani A, , Mokhtari A. 2006. Endogamy, isonymy and consanguinity in the region of the Gharb-Chrarda-B\u00e9ni Hssen (Morocco) Antropo Revista de Antropolog\u00eda f\u00edsica, 11:223-233.","journal-title":"Antropo Revista de Antropolog\u00eda f\u00edsica"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02693.x"},{"key":"e_1_3_2_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932009003393"},{"key":"e_1_3_2_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0158"},{"key":"e_1_3_2_11_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2004.19.6.870"},{"key":"e_1_3_2_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_3_2_13_1","first-page":"265","article-title":"Spinal muscular atrophy","volume":"18","author":"Ludvigsson P","year":"1999","unstructured":"Ludvigsson P, , Olafsson E, , Hauser WA. 1999. Spinal muscular atrophy. Incidence in Iceland. Neuroepidemiology, 18:265-269.","journal-title":"Incidence in Iceland. 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Genet Test Mol Biomarkers[Epub ahead of print]10.1089\/gtmb.2010.0237.","DOI":"10.1089\/gtmb.2010.0237"},{"key":"e_1_3_2_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000110905"},{"key":"e_1_3_2_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80015-5"},{"key":"e_1_3_2_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181c5e713"},{"key":"e_1_3_2_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2010.03.001"},{"key":"e_1_3_2_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100473"},{"key":"e_1_3_2_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.631"},{"key":"e_1_3_2_21_1","first-page":"917","volume-title":"Molecular Cloning-A Laboratory Manual","author":"Sambrook J","year":"1989","unstructured":"Sambrook J, , Fritsh EF, , Maniatis T. 1989. Isolation of DNA from mammalian cells. Sambrook J, , Fritsh EF, , Maniatis T. Molecular Cloning-A Laboratory Manual. 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