Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis

Clinical Chemistry

Volumn 55, Issue 7, 2009, Pages 1372-1379

  Elce, Ausilia ^a,b   Boccia, Angelo ^a,b   Cardillo, Giuseppe ^a,b   Giordano, Sonia ^a,b   Tomaiuolo, Rossella ^a,b   Paolella, Giovanni ^a,b   Castaldo, Giuseppe ^a,b,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^c SEMM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CELL; CAPILLARY ELECTROPHORESIS; CFTR GENE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ELECTROPHORESIS, CAPILLARY; FEMALE; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PRENATAL DIAGNOSIS; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 67650046461     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2008.119545     Document Type: Article

References (25)

1. Hospital for Sick Children, Toronto. Cystic Fibrosis Mutation Database (CFMDB). http://www. genet. sickkids.on.ca/cftr/ (Accessed March 2007).
2. Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, et al. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem 1999;45:957-62.
3. 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.
4. Castaldo G, Martinelli P, Massa C, Fuccio A, Grosso M, Rippa E, et al. Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience. Clin Chim Acta 2000;298:121-33.
5. Tomaiuolo R, Spina M, Castaldo G. Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003;41:26-32.
6. Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. Ann Hum Genet 2005;69:15-24.
7. Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, et al. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibros 2008;7:347-51.
8. Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui LC. A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet 1991;49:1256-62.
9. Morral N, Estivill X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 1992;13:1362-4.
10. Mateau E, Calafell F, Bonné-Tamir B, Kidd JR, Casals T, Kidd KK, Bertranpetit J. Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene. Hum Hered 1999;49:15-20.
11. Blake D, Tan SL, Ao A. Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects. Mol Hum Reprod 1999;5:1166-75.
12. Eftedal I, Schwartz M, Bendtsen H, Andersen AN, Ziebe S. Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples. Mol Hum Reprod 2001;7:307-12.
13. Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, et al. DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Res 2005;33:D505-10.
14. Frumkin D, Wasserstrom A, Itzkovitz S, Harmelin A, Rechavi G, Shapiro E. Amplification of multiple genomic loci from single cells isolated by laser micro-dissection of tissues. BMC Biotechnol 2008;20:8-17.
15. Liu K, Muse SV. PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 2005;21:2128-9.
16. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995;12:921-7.
17. Cardillo G. HWtest: test if a locus is under Hardy Weinberg Proportion. http://www.mathworks. com/matlabcentral/fileexchange/14425 (Accessed May 2009).
18. Guo SW, Thompson EA. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 1992;48:361-72.
19. Castellani C, Cuppens H, Macek M, Cassiman JJ, Kerem E, Durie P, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96.
20. Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343-57.
21. Handyside AH, Robinson MD, Simpson RJ, Omar MB, Shaw MA, Grudzinskas JG, Rutherford A. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 2004;10:767-72.
22. Findlay I, Matthews PL, Mulcahy BK, Mitchelson K. Using MF-PCR to diagnose multiple defects from single cells: implications for PGD. Mol Cell Endocrinol 2001;183(Suppl 1):S5-12.
23. Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur J Hum Genet 2009;17:51-65.
24. Hughes D, Hill A, Redmond A, Nevin N, Graham C. Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families. Hum Genet 1995;95:462-4.
25. Morral N, Dörk T, Llevadot R, Dziadek V, Mercier B, Férec C, et al. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996;8:149-59. Erratum in: Hum Mutat 1996;8:295-6.