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Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 2003 Aug; Vol. 23 (8), pp. 669-77. - Publication Year :
- 2003
-
Abstract
- There is increasing interest in the use of preimplantation genetic diagnosis (PGD) as an alternative to routine prenatal diagnosis. However, the costs associated with development and testing of new PGD protocols have forced some PGD centres to limit the number of diseases for which PGD is offered. One of the main factors in the design of new protocols, which affects cost and accuracy, is the choice of the mutation-detection technique. We have assessed the reliability of DNA sequencing and mini-sequencing for clinical diagnosis at the single-cell level and have found them to be rapid and accurate. Extensive optimisation for individual mutations is not usually necessary when employing these versatile techniques and consequently a smaller investment of time and resources should be required during development of new protocols. Additionally, we report single-cell protocols for the diagnoses of cystic fibrosis, sickle cell anaemia and beta-thalassaemia, which utilise mini-sequencing. Unlike most mutation-detection techniques, mini-sequencing permits analysis of very small DNA fragments. Small amplicons experience low allele dropout (ADO) rates, and consequently this approach could potentially improve the reliability of PGD.<br /> (Copyright 2003 John Wiley & Sons, Ltd.)
- Subjects :
- Anemia, Sickle Cell diagnosis
Blastomeres chemistry
Cell Separation
Cheek
Cystic Fibrosis diagnosis
DNA Mutational Analysis
Fluorescent Dyes
Heterozygote
Humans
Mouth Mucosa cytology
Polymerase Chain Reaction methods
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
beta-Thalassemia diagnosis
Anemia, Sickle Cell genetics
Cells chemistry
Cystic Fibrosis genetics
Preimplantation Diagnosis methods
Sequence Analysis methods
beta-Thalassemia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0197-3851
- Volume :
- 23
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 12913874
- Full Text :
- https://doi.org/10.1002/pd.658