DETECTION OF TRISOMY 21 BY QUANTITATIVE FLUORESCENCE POLYMERASE CHAIN REACTION
Madalina Badila1*, Augustin Ofiteru1, Lorand Savu1, Dinu Florin Albu1, Dragos T. Stefanescu2
*Corresponding Author: Badila Madalina Genetic Lab SRL, Str. Garleni 3, Bl. C79, sector 6, 051651 Bucharest, Romania Tel: +0421 4131423 ; Fax: +0421 4028091 E-mail: office@geneticlab.ro
page: 23

REFERENCES

1.       Valero R, Marfany G, Gil-Benso R, Ibanez MA, Pajares IL, Prieto F, Rul.Ian G, Sarret E, Gonzales-Duarte R. Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR. J Med Genet 1999; 36:694-699

2.       Korenberg JR et al.. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci 1994; 91:4997-5001 (abstract)

3.       Yoon HR, Park YS, Kim YK. Rapid prenatal detection of Down and Edwards syndromes by Fluorescent Polymerase Chain Reaction with Short Tandem Repeats Markers. Yonsei Medical Journal 2002;43(5): 557-566

4.       Mansfield ES. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993; 2: 43-50

5.       Findlay I, Tóth T, Matthews P, Marton T, Quirqe P, Papp Z. Rapid trisomy diagnosis (21, 18 and 13) using fluorescent PCR and short tandem repeats: application for prenatal diagnosis and preimplantation genetic diagnosis. Journal of Assisted Reproduction and Genetics 1998;15(5): 266-275

6.       Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sherlock J, Adinolfi M. Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet 1996;98: 55-59

7.       Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet 1999;36: 300-303

8.       DNA IQ™System Database Protocol. Tehnical Bulletin. Promega, USA

9.       PowerPlex®16 System. Tehnical Bulletin. Promega, USA

 




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