Tecnologia Genética

Abstrato

Mutational analysis of FOG2 gene in patients with congenital Heart disease

Brindha Elangovan

Congenital heart disease (CHD) is one of the types of developmental defect, with high rates of morbidity in infants. A transcription factor GATA binding factor 4 (GATA4) has been reported to serve an important role in embryogenesis and cardiac development. Aim of the study is to evaluate Mutational analysis of FOG2 genein congenital Heart disease. We have chosen FOG2 for the identification of rare variations in CHD patients from Indian population. To evaluate the study we have done the PCR amplification for Exon 7 and Exon 8, since most of the zinc finger domains of FOG2 are localized in these two exons. Exon 8 was subdivided into 5 different region i.e. Exon 8A-8E because it has long coding region. These exons were amplified in different conditions. For example, Exon 8A-B and E were amplified with Platinum taq DNA polymerase without requirement of any PCR enhancers such as DMSO (Di-methyl-sulfo-oxide) or betaine. However, Exon 8C was amplified in the presence of DMSO. The annealing temperature for every exons are different. Exon 7 is amplified Taq DNA polymerase. The specificity and quantity of amplified products are checked by the 100bp DNA ladder.