Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis

Journal of Assisted Reproduction and Genetics

Volumn 13, Issue 2, 1996, Pages 104-106

  Ray, Pierre F ^a   Winston, Robert M L ^a   Handyside, Alan H ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

allele dropout; cystic fibrosis; preimplantation genetic diagnosis; single cell analysis

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLASTOMERE; CYSTIC FIBROSIS; EMBRYO; EMBRYO TRANSFER; FERTILIZATION IN VITRO; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ALLELES; ARTIFACTS; BLASTOMERES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; MICROCHEMISTRY; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION;

EID: 0030022056     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02072529     Document Type: Article

References (9)

1. Handyside AH: Diagnosis of inherited disease before implantation. Reprod Med Rev 1993;2:51-61
2. Kerem B. Rommens JM. Buchanan JA, Markiewicz D, Cox TK. Chakravarti A. Buchwald M. and Tsui L-C: Identification of the cystic fihrosis gene: Genetic analysis. Science 1989;245:1073-1080
3. Lesko J. Snabes M. Handyside AH, Hughes M: Amplification of the cystic fihrosis DF508 mutation from single cells: Applications toward genetic diagnosis of the preimplantation embryo. Am J Hum Genet (abstr) 1991;49(4):223
4. Handyside AH, Lesko JG, Tarin JJ, Winston RM. and Hughes MR: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992;327:905-909
5. Ao A. Ray PF. Harper J. Lesko J, Paraschos T. Atkinson G. Soussis J. Taylor D. Handyside AH. Hughes M. Winston RML: Clinical experience with preimplantation genetic diagnosis of cystic fibrosis. Prenatal Diagn 1996;15 (in press)
6. Ray PF, Winston RML, Handyside AH: Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation. Miami Bio/Technology. Short Reports. Advances in Gene Technology: Molecular Biology and Human Genetic Disease 5:46 (abstr)
7. Cui XF, Li HH, Goradia TM, Lange K, Kazazian HHJ. Galas D. Arnheim N: Single-sperm typing: Determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl. Acad Sci USA 1989; 86:9389-9393
8. Ray PF. Handyside AH: PCR from single cells for preimplantation diagnosis. In Method in Molecules Biology: Molecular Diagnosis of Genetic Disease (in press)
9. Ray PF. Winston RML, Handyside AH: Assessment of the reliability of single blastomere analysis for preimplantation genetic diagnosis of the ΔF508 deletion in clinical practice. Hum Reprod (in press)