2014
DOI: 10.1038/gim.2013.188
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Cystic fibrosis carrier screening in a North American population

Abstract: Methods:Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830). Results:The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) usi… Show more

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Cited by 43 publications
(38 citation statements)
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“…We conducted a limited carrier screen for variants relevant to cystic fibrosis ( CFTR , MIM: 219700), beta-thalassemia ( HBB , MIM: 613985), sickle cell disease ( HBB , MIM: 603903), and Tay-Sachs disease ( HEXA , MIM: 272800), which are among the most common Mendelian diseases (average carrier risk is 1/40) 7 9 . We observed eight P/LP variants in CFTR across 35 individuals (4.4% of parent cohort), four HEXA variants across five individuals (0.6%), and three HBB variants across eight individuals (1%) ( Table 2 ; Table S2 ).…”
Section: Resultsmentioning
confidence: 99%
“…We conducted a limited carrier screen for variants relevant to cystic fibrosis ( CFTR , MIM: 219700), beta-thalassemia ( HBB , MIM: 613985), sickle cell disease ( HBB , MIM: 603903), and Tay-Sachs disease ( HEXA , MIM: 272800), which are among the most common Mendelian diseases (average carrier risk is 1/40) 7 9 . We observed eight P/LP variants in CFTR across 35 individuals (4.4% of parent cohort), four HEXA variants across five individuals (0.6%), and three HBB variants across eight individuals (1%) ( Table 2 ; Table S2 ).…”
Section: Resultsmentioning
confidence: 99%
“…We conducted a limited carrier screen for variants relevant to cystic fibrosis (CFTR, MIM: 219700), beta-thalassemia (HBB, MIM: 613985), sickle cell disease (HBB, MIM: 603903), and Tay-Sachs disease (HEXA, MIM: 272800), which are among the most common Mendelian diseases (average carrier risk is 1/40) [7][8][9] . We observed eight P/LP variants in CFTR across 35 individuals (4.4% of parent cohort), four HEXA variants across five individuals (0.6%), and three HBB variants across eight individuals (1%) ( Table 2; Table S2).…”
Section: Carrier Status Findingsmentioning
confidence: 99%
“…Such programs are undertaken in some regions around the world, as in Australia, in the Veneto region in Italy or in the US [9][10][11].…”
Section: Introductionmentioning
confidence: 99%