Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians

Genetics in Medicine

Volumn 4, Issue 2, 2002, Pages 90-94

  Palomaki, Glenn E ^a   Haddow, James E ^a   Bradley, Linda A ^b   FitzSimmons, Stacey C ^c  

^a FOUNDATION FOR BLOOD RESEARCH   (United States)

^b Clinigene Laboratories   (United States)

^c FitzSimmons and Associates   (United States)

Author keywords

Caucasians; Cystic fibrosis; Mutation frequencies; Prenatal screening

Indexed keywords

ARTICLE; CAUCASIAN; CYSTIC FIBROSIS; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DATABASE; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; MEDICAL ASSESSMENT; MEDICAL GENETICS; PRENATAL SCREENING; RISK FACTOR; GENETIC SCREENING; GENETICS; MUTATION; NORTH AMERICA; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

CYSTIC FIBROSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MUTATION; NORTH AMERICA; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 0036511852     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200203000-00007     Document Type: Article

References (14)

1. NIH Consensus Development Conference Statement. Genetic testing for cystic fibrosis. Available at: http://odp.od.nih.gov/consensus/cons/106/106 intro.htm. Accessed August 30, 2001.
2. Mennuti MT, Thomson E, Press N. Screening for cystic fibrosis carrier state. Obstet Gynecol 1999;93:456-461.
3. Haddow JE, Bradley LA, Palomaki GE, Doherty RA, Bernhardt BA, Brock DJ, Cheuvront B, Cunningham GC, Donnenfeld AE, Erickson JL, Erlich HA, Ferrie RM, FitzSimmons SC, Greene MF, Grody WW, Haddow PK, Harris H, Holmes LB, Howell RR, Katz M, Klinger KW, Kloza EM, LeFevre ML, Little S, Loeben G, McGovern M, Pyeritz RE, Rowley PT, Saiki RK, Short MP, Tabone J, Wald NJ, Wilker NL, Witt DR. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 1999;1:129-138.
4. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
5. Grody WW, Desnick RJ. Cystic fibrosis population carrier screening: Here at last - are we ready? Genet Med 2001;3:87-90.
6. Kazazian HH for The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167-177.
7. Cystic Fibrosis Foundation. Patient registry 1999. Annual data report. September 2000; Bethesda, Md;.
8. Estivill X, Bancells C, Ramon C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 1997;10:135-154.
9. Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med 2001;3:168-176.
10. FitzSimmons S. The changing epidemiology of cystic fibrosis. J Pediatr 1993;122: 1-9.
11. Girogi S, Tandoi C, Ciminelli BM, Modiano G. A correction of the estimates of the least common cystic fibrosis (CF) mutations published by "The Cystic Fibrosis Genetic Analysis Consortium" in 1994. Gene Geogr 1997;11:57-59.
12. Hamosh A, FitzSimmons SC, Macek M, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998;132:25-29.
13. Wit DR, Coppinger J. Cystic fibrosis prenatal screening of 27,000 women in a large HMO. Am J Hum Genet 2001;69:A2.
14. Rohlfs EM, Sugarman EA, Heim RA, Allitto BA. Frequency of carriers of two cystic fibrosis mutations in an apparently unaffected adult population [abstract]. Genet Med 2001;3:237.