Multiple mutation analysis of the cystic fibrosis gene in single cells

Molecular Human Reproduction

Volumn 11, Issue 6, 2005, Pages 463-468

  Sanchez García, Jorge Fernando ^a   Benet, Jordi ^a   Gutiérrez Mateo, Cristina ^a   Séculi, José Luís ^b   Monrós, Eugènia ^b   Navarro, Joaquima ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Cystic fibrosis; Embryo; First polar body; PEP PCR; PGD

Indexed keywords

TAQ POLYMERASE; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ARTICLE; CELL ISOLATION; CHEEK; CLINICAL ARTICLE; CONTROLLED STUDY; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; OOCYTE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; SENSITIVITY ANALYSIS; SOUTHERN EUROPE; STATISTICAL SIGNIFICANCE; ALLELE; CYSTIC FIBROSIS; CYTOLOGY; FEMALE; GENETICS; METHODOLOGY; MOUTH MUCOSA; MUTATION; NUCLEOTIDE SEQUENCE; PREGNANCY;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MOUTH MUCOSA; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 24944560641     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gah176     Document Type: Article

References (26)

1. Bermúdez MG, Piyamongkol W, Tomaz S, Dudman E, Sherlock JK and Wells D (2003) Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis. Prenat Diagn 23,669-677.
2. Cutting GR (1997) Cystic fibrosis. [i#Emery and Rimoin's. Principles and Practice of Medical Genetics#1i], 3rd edn, Vol 2. Churchill Livingstone, New York.
3. Dietmaier W, Hartmann A, Wallinger S, Heinmöller E, Kerner T, Endl E, Jauch KW, Hofstädter F and Rüschoff J (1999) Multiple mutation analyses in single tumor cells with improved whole genome amplification. Am J Pathol 154,83-95.
4. Dreesen JC, Jacobs LJ, Bras M, Herbergs J, Dumoulin JC, Geraedts JP, Evers JL and Smeets HJ (2000) Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 6,391-396.
5. Durban M, Benet J, Boada M, Fernández E, Calafell JM, Lailla JM, Sánchez-García JF, Pujol A, Egozcue J and Navarro J (2001) PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum Reprod Update 6,591-602.
6. Eftedal I, Schwartz M, Bendtsen H, Andersen AN and Ziebe S (2001) Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides a positive allele identification of all CFTR genotypes for informative couples. Mol Hum Reprod 3,307-312.
7. El-Hashemite N and Delhanty JDA (1997) A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis. Mol Hum Reprod 11,975-978.
8. Findlay I, Ray P, Quirke P, Rutherford A and Lilford R (1995) Allelic dropout and preferential amplification in single cells and human blastomeres: Implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 6,1609-1618.
9. Fiorentino F, Magli MC, Podini D, Ferraretti AP, Nuccitelli A, Vitale N, Baldi M and Gianaroli L (2003) The minisequencing method: An alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 7,399-410.
10. Foucault F, Praz F, Jaulin C and Amor-Gueret M (1996) Experimental limits of PCR analysis of (CA)n repeat alterations. Trends Genet 11,450-452.
11. Gitlin SA, Gibbons WE and Gosden RG (2003) Oocyte biology and genetics revelations from polar bodies. Reprod Biomed Online 2,47-53.
12. Goosens V, Sermon K, Lissens W, De Rycke M, Saerens B, De Vos A, Henderix P, Van de Velde H, Platteau P, Van Steirteghem A et al. (2003) Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the ΔF508 mutation. Mol Hum Reprod 9,559-567.
13. Handyside AH, Robinson MD, Simpson RJ, Omar MB, Shaw MA, Grudzinskas JG and Rutherford A (2004) Isothermal whole genome amplification from single and small numbers of cells: A new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 10,767-772.
14. Magli MC, Gianaroli L, Ferraretti AP, Toschi M, Esposito F and Fasolino MC (2004) The combination of polar body and embryo biopsy does not affect embryo viability. Hum Reprod 19,1163-1169.
15. Piyamongkol W, Bermúdez MG, Harper JC and Wells D (2003) Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: Implications for preimplantation genetic diagnosis. Mol Hum Reprod 7,411-420.
16. Ray PF, Frydman N, Attie T, Hamamah S, Kerbrat V, Tachdjian G, Romana S, Vekemans M, Frydman R and Munnich A (2002) Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. Mol Hum Reprod 7,688-694.
17. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL et al. (1989) Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA, Science, 245, 1066-1073.
18. Sermon K, Moutou C, Harper J, Geraedts J, Scriven P, Wilton L, Magli MC, Michiels A, Viville S and De Die C (2005) ESHRE PGD Consortium data collection IV: May-December 2001. Hum Reprod 20,19-34.
19. Strom CM, Verlinsky Y, Milayeva S, Evsikov S, Cieslak J, Lifchez A, Valle J, Moise J, Ginsberg N and Applebaum M (1990) Preconception genetic diagnosis of cystic fibrosis. Lancet 336,306-307.
20. Thornhill AR and Snow K (2002) Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn 1,11-29.
21. Thornhill AR, Dedie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Robinson MD, Schmutzler AG, Scriven PN et al. (2005) ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 20,35-48.
22. Verlinsky Y and Kuliev A (1992) Micromanipulation of gametes and embryos in preimplantation genetic diagnosis and assisted fertilization. Curr Opin Obstet Gynecol 4,720-725.
23. Vrettou C, Tzetis M, Traeger-Synodinos J, Palmer G and Kanavakis E (2002) Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations. Mol Hum Reprod 9,880-886.
24. Wells D and Sherlock J (1998) Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn 18,1389-1401.
25. Wells D, Sherlock JK, Handyside AH and Delhanty JD (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 4,1214-1218.
26. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W and Arnheim N (1992) Whole genome amplification from a single cell: Implications for genetic analysis. Proc Natl Acad Sci USA 89,5847-5851.