We have developed a simple and rapid nonradioactive method for detecting genetic variation and have applied it to the diagnosis of sickle cell anemia and beta-thalassemia. The procedure involves the selective amplification of a segment of the human beta-globin gene with oligonucleotide primers and a thermostable DNA polymerase, followed by hybridization of the amplified DNA with allele-specific oligonucleotide probes covalently labeled with horseradish peroxidase. The hybridized probes were detected with a simple colorimetric assay. We demonstrated the usefulness of this method in a retrospective analysis of two pregnancies at risk for beta-thalassemia and one at risk for sickle cell anemia, as well as in an analysis of nine DNA samples simulating three family sets.
Source Information
Department of Human Genetics, Cetus Corporation, Emeryville, Calif. 94608.
This article has been cited by other articles:
Glynou, K., Kastanis, P., Boukouvala, S., Tsaoussis, V., Ioannou, P. C., Christopoulos, T. K., Traeger-Synodinos, J., Kanavakis, E.
(2007). High-Throughput Microtiter Well-Based Chemiluminometric Genotyping of 15 HBB Gene Mutations in a Dry-Reagent Format. Clin. Chem.
53: 384-391
[Abstract][Full Text]
Bouhlal, H., Chomont, N., Requena, M., Nasreddine, N., Saidi, H., Legoff, J., Kazatchkine, M. D., Belec, L., Hocini, H.
(2007). Opsonization of HIV with Complement Enhances Infection of Dendritic Cells and Viral Transfer to CD4 T Cells in a CR3 and DC-SIGN-Dependent Manner. J. Immunol.
178: 1086-1095
[Abstract][Full Text]
Jado, I., Escudero, R., Gil, H., Jimenez-Alonso, M. I., Sousa, R., Garcia-Perez, A. L., Rodriguez-Vargas, M., Lobo, B., Anda, P.
(2006). Molecular Method for Identification of Rickettsia Species in Clinical and Environmental Samples. J. Clin. Microbiol.
44: 4572-4576
[Abstract][Full Text]
Park, R., Doh, H.-J., An, S.-S. A., Choi, J.-R., Chung, K.-H., Song, K.-S.
(2006). A novel fibrinogen variant (fibrinogen Seoul II; A{alpha}Gln328Pro) characterized by impaired fibrin {alpha}-chain cross-linking. Blood
108: 1919-1924
[Abstract][Full Text]
Fischer, A., Lejczak, C., Lambert, C., Servais, J., Makombe, N., Rusine, J., Staub, T., Hemmer, R., Schneider, F., Schmit, J. C., Arendt, V.
(2004). Simple DNA Extraction Method for Dried Blood Spots and Comparison of Two PCR Assays for Diagnosis of Vertical Human Immunodeficiency Virus Type 1 Transmission in Rwanda. J. Clin. Microbiol.
42: 16-20
[Abstract][Full Text]
Costa-Riu, N., Burkovski, A., Kramer, R., Benz, R.
(2003). PorA Represents the Major Cell Wall Channel of the Gram-Positive Bacterium Corynebacterium glutamicum. J. Bacteriol.
185: 4779-4786
[Abstract][Full Text]
Berkhout, R. J. M., Bouwes Bavinck, J. N., ter Schegget, J.
(2000). Persistence of Human Papillomavirus DNA in Benign and (Pre)malignant Skin Lesions from Renal Transplant Recipients. J. Clin. Microbiol.
38: 2087-2096
[Abstract][Full Text]
Gubbels, J. M., de Vos, A. P., van der Weide, M., Viseras, J., Schouls, L. M., de Vries, E., Jongejan, F.
(1999). Simultaneous Detection of Bovine Theileria and Babesia Species by Reverse Line Blot Hybridization. J. Clin. Microbiol.
37: 1782-1789
[Abstract][Full Text]
Logan, M, Mohun, T
(1993). Induction of cardiac muscle differentiation in isolated animal pole explants of Xenopus laevis embryos. Development
118: 865-875
[Abstract]
Fortina, P, Dotti, G, Conant, R, Monokian, G, Parrella, T, Hitchcock, W, Rappaport, E, Schwartz, E, Surrey, S
(1992). Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS).. Genome Res
2: 163-166
[Abstract]
Barany, F
(1991). The ligase chain reaction in a PCR world.. Genome Res
1: 5-16
Erlich, H., Gelfand, D, Sninsky, J.
(1991). Recent advances in the polymerase chain reaction. Science
252: 1643-1651
[Abstract]
Previous
