{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:03:07Z","timestamp":1789758187009,"version":"4.0.1"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2011,6,1]],"date-time":"2011-06-01T00:00:00Z","timestamp":1306886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,6,1]]},"abstract":"<jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>An allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence detection were used in testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>One in 38 individuals carried one of the 98 CFTR mutations included in this panel. Of the 87 different mutations detected, 18 were limited to a single ethnic group. African American, Hispanic, and Asian individuals accounted for 33% of the individuals tested. The mutation frequency distribution of Caucasians was significantly different from that of each of these ethnic groups (P &amp;lt; 1 \u00d7 10\u221210).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>Carrier testing using a broad mutation panel detects differences in the distribution of mutations among ethnic groups in the US.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1373\/clinchem.2010.159285","type":"journal-article","created":{"date-parts":[[2011,4,7]],"date-time":"2011-04-07T23:08:45Z","timestamp":1302217725000},"page":"841-848","source":"Crossref","is-referenced-by-count":63,"title":["Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population"],"prefix":"10.1093","volume":"57","author":[{"given":"Elizabeth M","family":"Rohlfs","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoqing","family":"Zhou","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth A","family":"Heim","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narasimhan","family":"Nagan","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne S","family":"Rosenblum","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Flynn","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Scholl","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viatcheslav R","family":"Akmaev","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D Alexa","family":"Sirko-Osadsa","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice A","family":"Allitto","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine A","family":"Sugarman","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA. See disclosures for current author affiliations"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,6,1]]},"reference":[{"key":"2020022705031735800_B1","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/S0022-3476(98)70344-0","article-title":"The diagnosis of cystic fibrosis: a consensus statement. 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