Polymerase chain reaction polymorphisms

Progress in molecular biology has provided a new perspective. Techniques such as the polymerase chain reaction and single-strand conformation polymorphism analysis have greatly facilitated the molecular analysis of erythroenzymopathies. These studies have clarified the correlation between the functional and structural abnormalities of the variant enzymes. In general, the mutations that induce an alteration of substrate binding site and/or enzyme instability might result in markedly altered enzyme properties and severe clinical symptoms. 

Sato, T. Hu, J. P Ohki, K. Yamaura, M. Washio, J. Matsuyama, J. Takahashi, N. Identification of mutans streptococci by restriction fragment length polymorphism analysis of polymerase chain reaction-amplified 16S ribosomal RNA genes. Oral Microbiol. Immunol. 2003,18, 323-326. 

Guo, Z.G. and Johnson, A.M. (1995) Genetic characterization of Toxoplasma gondii strains by random amplified polymorphic DNA polymerase chain reaction. Parasitology 111, 127-132. 

Joachim, A., Daugschies, A., Christensen, C.M., Bj0rn, H. and Nansen, P. (1997) Use of random amplified polymorphic DNA-polymerase chain reaction... 

Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879. 

Stothard, J.R., Frame, IA. and Miles, MA. (1997) Use of polymerase chain reaction-based single strand conformational polymorphism and denaturing gradient gel electrophoresis methods for detection of sequence variation of ribosomal DNA of Trypanosoma cruzi. International Journal for Parasitology 27, 339-343. 

Wu, Z., Nagano, I. and Takahashi, Y. (1998) The detection of Trichinella with polymerase chain reaction (PCR) primers constructed using sequences of random amplified polymorphic DNA (RAPD) or sequences of complementary DNA encoding excretory-secretory (E-S) glycoproteins. Parasitology 117, 173-183. 

Format 1 SBH can be used to uncover polymorphism and mutations in a particular gene. The sample amplicons of genomic DNA of a test individual and the amplicons for the control DNA for the gene of interest with a known reference sequence are both prepared by polymerase chain reaction (PCR). A subset of probes that is complementary... 

Oh, K.T., Anis, A.H., and Bae, S.C. (2004) Pharmacoeconomic analysis of thiopurine methyltransferase polymorphism screening by polymerase chain reaction for treatment with azathioprine in Korea. Rheumatology (Oxford). 43,156-163. 

Maesawa, C Tamura, G Suzuki, Y., Ishida, K., Saito, K., and Satodate, R. (1992) Sensitive detection of p53 gene mutations in esophageal endoscopic biopsy specimens by cell sorting combined with polymerase chain reaction single-strand conformation polymorphism analysis. Jpn. J. Cancer Res. 83, 1253-1256. 

Saed G, Ladin D, Olson J (1998) Analysis of p53 gene mutations in keloids using polymerase chain reaction-based single-strand conformational polymorphism and DNA sequencing. Arch Dermatol 134 963-967... 

More recently, the forensic application of DNA testing has dramatically enhanced the ability to determine the source of a blood sample. Two procedures are in forensic use restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR). 

Baumann, R. E., and Henschen, A. H. (1993). Human fibrinogen polymorphic site analysis by restriction endonuclease digestion and allele-specific polymerase chain reaction amplification Identification of polymorphisms at positions A alpha 312 and B beta 448. Blood 82, 2117-2124. 

---