Top Abstract Purchase Related
Home
>
Node
>
Subnode

The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report

Macek, M.; Boehm, I.; Arnold, L.; Smrt, J.; Macek, M.; Duspivová, R.; Vávrová, V.; Sedlácek, Z.; Sperling, K.; Schmidtke, J.

Czechoslovak Medicine 13(4): 145-159

1990

ISSN/ISBN: 0139-9179
PMID: 1981984
Document Number: 349784
The authors report their experience with about two thousand DNA amplifications by polymerase chain reaction (PCR) in prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of diagnostic informativity and prenatal diagnosis examination in a family at 1 in 4 risk of the disease using closely CF-linked diagnostic polymorphisms: J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI and XV2c/TaqI, PCR methodology and safety precautions are discussed.

Document emailed within 1 workday
Secure & encrypted payments

Macek, M.; Böhm, I.; Arnold, L.; Smrt, J.; Macek, M.; Duspivová, R.; Vávrová, V.; Sedlácek, Z.; Schmidtke, J. 1990: Experience with rapid molecular genetic diagnosis using the polymerase chain reaction Casopis Lekaru Ceskych 129(19): 590-595
Ashwini, M.; Ashwini, N.; Arunkumar, N.; Gunasheela, D. 2020: A Study on Diagnostic Evaluation of two Different Rapid DNA Polymerase Chain Reaction Techniques Namely Gene Xpert Mycobacterium Tuberculosis/Rifampin (MTB/RIF) and Mycoreal Polymerase Chain Reaction in the Diagnosis of Endometrial Tuberculosis Considering Culture as Gold Standard Journal of Human Reproductive Sciences 13(4): 290-295
Macek, M.; Böhm, I.; Arnold, L.; Smrt, J.; Duspivová, R.; Vávrová, V.; Macek, M.; Jelínková, E.; Schmidtke, J. 1990: Cystic fibrosis marker testing in Bohemia with polymerase chain reaction Acta Universitatis Carolinae. Medica 36(1-4): 108-111
Reechaipichitkul, W.; Lulitanond, V.; Sungkeeree, S.; Patjanasoontorn, B. 2000: Rapid diagnosis of tuberculous pleural effusion using polymerase chain reaction Southeast Asian Journal of Tropical Medicine and Public Health 31(3): 509-514
Kovács, L. 1993: The polymerase chain reaction as a new method in molecular genetics for use in clinical diagnosis Ceskoslovenska Pediatrie 48(3): 170-172
Echeverría, M.G.; Pecoraro, M.R.; Pereyra, N.B.; Pidone, C.L.; Galosi, C.M.; Etcheverrigaray, M.E.; Nosetto, E.O. 2000: Rapid diagnosis of pseudorabies virus infection in swine tissues using the polymerase chain reaction (PCR) Revista Argentina de Microbiologia 32(3): 109-115
Ito, K.; Watanabe, H.; Toyosato, M.; Kosaka, T.; Mizuno, K. 1992: Genetic analysis of Shigella pathogenesis and rapid detection method of Shigella virulence gene by the polymerase chain reaction Nihon Rinsho. Japanese Journal of Clinical Medicine 50 Suppl: 368-372
Baig, S.; Ho, S.S.Y.; Ng, B.L.; Chiu, L.; Koay, E.S.C.; Leow, G.H.; Gole, L.; Kothandaraman, N.; Chan, J.; Sun, X.; Chan, Y.H.; Rauff, M.; Su, L.L.; Biswas, A.; Choolani, M. 2010: Development of quantitative-fluorescence polymerase chain reaction for the rapid prenatal diagnosis of common chromosomal aneuploidies in 1,000 samples in Singapore Singapore Medical Journal 51(4): 343-348
Li, Q.; Ma, Y.-l.; Pan, Q. 2002: Comparison of different lysis buffers in the assessment of the efficiency of single cell polymerase chain reaction for preimplantation genetic diagnosis Hunan Yi Ke da Xue Xue Bao 27(3): 201-203
Durán Domínguez, M.; Molina Carrillo, M.; Fernández Toral, J.; Martínez Merino, T.; López Arístegui, M.A.; Alvarez Retuerto, A.I.; Onaindía Urquijo, M.L.; Tejada Mínguez, M.I. 2001: Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain Anales Espanoles de Pediatria 54(4): 331-339
Tani, N.; Ichikawa, D.; Ikoma, D.; Ikoma, H.; Sai, S.; Tomita, H.; Okamoto, K.; Kikuchi, S.; Fujiwara, H.; Ochiai, T.; Ueda, Y.; Otsuji, E.; Hagiwara, A.; Yamagishi, H. 2006: An early detection of recurrence using reverse transcriptase-polymerase chain reaction (RT-PCR) and methylation-specific polymerase chain reaction (MSP) from peripheral blood in patients after gastrectomy Gan to Kagaku Ryoho. Cancer and ChemoTherapy 33(12): 1720-1722
Dobrovic, A.; Morley, A.A.; Seshadri, R.; Januszewicz, E.H. 1991: Molecular diagnosis of Philadelphia negative CML using the polymerase chain reaction and DNA analysis: clinical features and course of M-bcr negative and M-bcr positive CML Leukemia 5(3): 187-190
Pan, T.-M.; Liu, Y.-J. 2002: Identification of Salmonella enteritidis isolates by polymerase chain reaction and multiplex polymerase chain reaction Journal of Microbiology Immunology and Infection 35(3): 147-151
Kenten, J.H.; Casadei, J.; Link, J.; Lupold, S.; Willey, J.; Powell, M.; Rees, A.; Massey, R. 1991: Rapid electrochemiluminescence assays of polymerase chain reaction products Clinical Chemistry 37(9): 1626-1632
Rosenberg, H.F.; Corrette, S.E.; Tenen, D.G.; Ackerman, S.J. 1991: Rapid cDNA library screening using the polymerase chain reaction Biotechniques 10(1): 53-54
Joshi, A.K.; Baichwal, V.; Ames, G.F. 1991: Rapid polymerase chain reaction amplification using intact bacterial cells Biotechniques 10(1): 42 44-5
McHale, R.H.; Stapleton, P.M.; Bergquist, P.L. 1991: Rapid preparation of blood and tissue samples for polymerase chain reaction Biotechniques 10(1): 20 22-3
Wilson, R.K.; Chen, C.; Hood, L. 1990: Optimization of asymmetric polymerase chain reaction for rapid fluorescent DNA sequencing Biotechniques 8(2): 184-189
Yenchitsomanus, P.T.; Sricharoen, P.; Jaruthasana, I.; Pattanakitsakul, S.N.; Nitayaphan, S.; Mongkolsapaya, J.; Malasit, P. 1996: Rapid detection and identification of dengue viruses by polymerase chain reaction (PCR) Southeast Asian Journal of Tropical Medicine and Public Health 27(2): 228-236
Rosario Domínguez, D.; Suárez Morán, C.M.; Rodríguez Roche, R.; Soler Nodarse, M.; Guzmán Tirado, M.G. 1996: The rapid identification of dengue virus serotypes by the polymerase chain reaction Revista Cubana de Medicina Tropical 48(3): 155-160