{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:27:27Z","timestamp":1786739247428,"version":"build-2736575974"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>\n                      Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene\n                      <jats:italic toggle=\"yes\">(SMN1)<\/jats:italic>\n                      located on chromosome 5q13.2. It is the most common hereditary cause of neonatal death. Ethnicity specific studies are desirable for estimating the prevalence of carrier status of this disease in a population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To estimate the carrier frequency of SMA among individuals of a reproductive age group in a North Indian cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>SMA carrier screening was offered to individuals of a reproductive age group (&gt;18 years) visiting a tertiary care center. Multiplex ligation-dependent probe amplification (MLPA) and quantitative real-time polymerase chain reaction (PCR) were the molecular techniques used to detect the carrier status.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A total of 198 individuals without a family history of SMA were screened in this study. The carrier frequency of heterozygous deletion of\n                      <jats:italic toggle=\"yes\">SMN1<\/jats:italic>\n                      gene in our cohort was found to be 1 in 30 (~3\/100).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The carrier frequency of SMA is high in our country. The data from the study emphasize the need of a population carrier screening program on SMA in India.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/jfmpc.jfmpc_869_22","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T03:51:56Z","timestamp":1675050716000},"page":"7870-7874","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India"],"prefix":"10.4103","volume":"11","author":[{"given":"Anupriya","family":"Kaur","sequence":"first","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Kumari","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology and Medical Oncology, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anit","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riya","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[{"name":"Department of Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"R1-20260204","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet (London, England)"},{"key":"R2-20260204","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.10425","article-title":"Genetic risk assessment in carrier testing for spinal muscular atrophy","volume":"110","author":"Ogino","year":"2002","journal-title":"Am J Med 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Ministry of Health and Family Welfare, Govt of India"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_869_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:27:13Z","timestamp":1786735633000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_869_22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_869_22","relation":{},"ISSN":["2249-4863","2278-7135"],"issn-type":[{"value":"2249-4863","type":"print"},{"value":"2278-7135","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"2022-04-16","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-09","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}