Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulatorfrom dried blood specimens - Implications for newborn screening

Genetics in Medicine

Volumn 8, Issue 9, 2006, Pages 557-562

  Kammesheidt, Anja ^a   Kharrazi, Martin ^b   Graham, Steve ^c   Young, Suzanne ^d   Pearl, Michelle ^c   Dunlop, Charles ^a   Keiles, Steven ^a  

^a AMBRY GENETICS   (United States)

^b CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^c Sequoia Foundation   (United States)

^d PUBLIC HEALTH INSTITUTE   (United States)

Author keywords

Ambry Test ; Cystic fibrosis; Dried blood; Mutation analysis; Newborn screening

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

AFRICAN AMERICAN; ARTICLE; BLOOD SAMPLING; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; CYSTIC FIBROSIS GENE; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GEL ELECTROPHORESIS; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HISPANIC; HUMAN; INFANT; MALE; NEWBORN SCREENING; SENSITIVITY ANALYSIS; UNITED STATES;

BLOOD SPECIMEN COLLECTION; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; SENSITIVITY AND SPECIFICITY;

EID: 33748753066     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000237793.19868.97     Document Type: Article

References (29)

1. CFF patient registry annual data report 2004. Available at: http://www.cff.org/publications/#Patient_Registry. Accessed on June 20, 2006.
2. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-1080.
3. Riordan JR, Rommens JM, Kerem B, Alon N, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-1073. Erratum in: Science 1989;245:1437.
4. Cystic Fibrosis Mutation Database. Available at: www.genet.sickkids.on. ca/cftr/. Accessed June 20, 2006.
5. Bobadilla JL, Macek M, Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
6. 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.
7. McCormick J, Green MW, Mehta G, Culross F, et al. Demographics of the UK cystic fibrosis population: implications for neonatal screening. Eur J Hum Genet 2002;10:583-590.
8. Orozco L, Zielenski J, Markiewicz D, Villarreal T, et al. Two novel frameshift deletions (1924del7, 2055del9->A) in the CFTR gene in Mexican cystic fibrosis patients. Hum Mutat 1997;10:239-240.
9. Orozco L, Velazquez R, Zielenski J, Tsui LC, et al. Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G->A). Hum Genet 2000;106:360-365.
10. Wong LJ, Wang J, Zhang YH, et al. Improved detection of CFTR mutations in southern California Hispanic CF patients. Hum Mutat 2002;19:79.
11. Alper OM, Wong LJ, Young S, Pearl M, et al. Identification of novel and rare mutations in California Hispanic and African-American cystic fibrosis patients. Hum Mutat 2004;24:353.
12. Alper OM, Wong LJ, Young S, Pearl M, et al. Erratum: Identification of novel and rare mutations in California Hispanic and African-American cystic fibrosis patients. Hum Mutat 2005;25:223.
13. Schrijver I, Ramalingam S, Sankaran R, Swanson S, et al. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn 2005;7:289-299.
14. California Genetics Disease Branch and the Public Health Institute, 2004. Available at: http://www.dhs.ca.gov/pcfh/gdb/html/PDE/CFStudy.htm. Accessed on June 20, 2006.
15. Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 1991;10:506-513.
16. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12. Erratum in: Hum Mutat 2002;20:403.
17. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:E57.
18. Mavrogiannis and Cockburn REX-MLPA User guide, 2004. Available at: http://leedsdna.info/science/dosage/REX-MLPA/REX-MLPA_analysis_User_Guide.pdf. Accessed on June 20, 2006.
19. Dork T, Macek M, Mekus F, Tummler B, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000;106:259-268.
20. Niel F, Martin J, Dastot-Le Moal F, Costes B, et al. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004;41:E118.
21. Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, et al. A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online. Hum Mutat 1999;13:337.
22. Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, et al. Novel CFTR mutations in black cystic fibrosis patients. Clin Genet 2004;65:284-287.
23. Kilinc MO, Ninis VN, Dagli E, Demirkol M, et al. Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet 2002;113:250-257.
24. Shrimpton AE, Borowitz D, Swender P. Cystic fibrosis mutation frequencies in upstate New York. Hum Mutat 1997;10:436-442.
25. Chevalier-Porst F, Souche G, Bozon D. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene. Hum Mutat 2005 May;25:504.
26. Grosse SD, Boyle CA, Botkin JR, Comeau AM, et al. CDC. Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53:1-36.
27. Chou LZ, Lyon E, Wittwer CT. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning. Am J Clin Path 2005 124:330-338.
28. Accurso FJ, Sontag MK, Wagener JS. Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 2005;147:S37-S41.
29. Kharrazi M, Kharrazi LD. Delayed diagnosis of cystic fibrosis and the family perspective. J Pediatr 2005;147:S21-S25.