Fifteen novel FBN1 mutations causing Marfan syndrome detected by
heteroduplex analysis of genomic amplicons.
Study of gene mutation and polymorphism is usually used PCR-SS-CP, manual or automatic sequencing and
heteroduplex analysis, the protein truncation test methods.
Alternate methods can been used to increase the detection sensitivity of melting assays, such as decreasing the PCR product length (10), calibration with an internal oligonucleotide duplex (13), quantitative
heteroduplex analysis after mixing with a known genotype (25), or the use of unlabeled probes (14, 15) or snapback primers (26, 27).
TCR beta variable genes (TCRBV) were amplified, after RNA isolation and cDNA synthesis, using TCRBV-specific primers; then PCR products were subjected to
heteroduplex analysis [17].
Identification of bloodmeals in haematophagous Diptera by cytochrome B
heteroduplex analysis. Med.
(19) A new method, combining seminested polymerase chain reaction with
heteroduplex analysis, was used by Oehadian et al (20) to detect FL cells in peripheral blood.
Identification of mosquito avian-derived blood meals by polymerase chain reaction
heteroduplex analysis. Am J Trop Med Hyg.
Later on, more efficient methods have been discovered including
heteroduplex analysis (Sitte et al., 1995), sequence-specific oligonucleotide typing (Sitte et al., 1996), denaturing gradient gel electrophoresis (Aldridge et al., 1998), and sequencing of the PCR products (Aida et al., 1995).
Methods: The presence of F508del mutation using PCR and
heteroduplex analysis was determined.
The PCR products were screened by
heteroduplex analysis. Small mutations (<30bp) in the FIX gene were made evident by shifted extra bands.