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 exon is different. Exon 7 is amplified Taq DNA polymerase. The specificity and quantity of amplified products are checked by the 100bp DNA ladder.

Congenital heart disease (CHD) remains a leading cause of death in new born and infants and is one of the most common human birth defect, affecting nearly 1% of all live births worldwide. However, several hospital and community based studies have been carried out in last two decades throughout the country to represent the actual burden of the CHD in the society. The etiology of CHD is poorly understood. It may be due to mutations in the genes involved in embryonic heart development during embryogenesis. Chromosomal anomalies including numerical and structural anomalies may also play causative role in the CHD.

Although, the knowledge about the role of mutations and chromosomal anomalies in CHD are increasing gradually, the role play by environmental factors cannot be overlooked completely. Prenatal exposure to Angiotensin Converting Enzyme (ACE) inhibitors increases the risk of several congenital defects, including those that cause heart diseases

Generally, congenital heart diseases arise through various combinations of genetic and environmental factors. The resources that support the contribution of specific environmental factors in CHD causation are limited still there are many examples like folic acid supplementation in the pre and peri-conception period, rubella vaccination before pregnancy and proper nutrition may reduce the risk of CHD in infants (Bruneau).

There are many signaling pathways such as BMPs, WNTs/ βcatenin, TGF-β, Notch signaling and Hedgehog signaling, transcription factors such as NKXs, GATAs, TBXs, SRF, FGFs and transcriptional regulators that are involved in the regulation processes. However, the roles of these signaling pathways in the early cardiac development have been well studied, but still it is in its infancy. TGF-β superfamily is a large group of molecules including more than 30 molecules such as TGF-β, NODAL, BMPs, Activins, GDFs, AMH, LEFTY etc.

Authors can submit their manuscript related to Gene; Mutational Analysis; Gene-zinc suppresser protein related topic as an email attachment to the mentioned mail ids genetech@peerjournals.com or genetechnol@molbioljournal.org

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