Author/Authors :
Soheili، Fariborz نويسنده , , Darabi، Parichehr نويسنده Cellular and Molecular Research Center, Kurdistan
University of Medical Sciences, Sanandaj, IR Iran , , Dahmardeh، Fatemeh نويسنده Department of Biology, Faculty of Sciences, Zabol
University, Zabol, IR Iran , , Heidary، Nilofar نويسنده Department of Marine Biology, Faculty of Marine Sciences,
Chabahar Maritime University, Chabahar, IR Iran , , Jalili، Zahra نويسنده Department of Cardiology, Faculty of Medicine, Kermanshah
University of Medical Sciences, Kermanshah, IR Iran , , Fooladi، Samira نويسنده Cellular and Molecular Research Center, Kurdistan
University of Medical Sciences, Sanandaj, IR Iran , , Hakhamanesh، Mohammad Saeid نويسنده Cellular and Molecular Research Center, Kurdistan
University of Medical Sciences, Sanandaj, IR Iran , , Heidarizadeh، Maseoud نويسنده Department of Biological Sciences and Biotechnology,
Faculty of Basic Sciences, University of Kurdistan, Sanandaj, IR
Iran ,
Abstract :
Background Congenital heart diseases (CHD) are the most common of
all birth defects, affecting nearly 0.9% of all live births. Nkx2-5
mutations were reported to cause CHD but data in Kurdish populations of
Iran are limited. Objectives In this experimental study, we performed
high resolution melt (HRM) mutation scanning of Nkx2-5 exons of
non-syndrome patients. Patients and Methods Thirty nine patients with
atrial septal defect and 57 patients with ventricular septal defect, 4
patients possessing both defects as case groups and 50 healthy controls.
Then we grouped samples according to HRM graph and sequenced several
samples from each group. Results HRM analysis showed 2 deviated curves
for exon 1 and one group for exon 2A and exon 2B. Then, 2 samples of
exon 1 that showed different HRM curves, 3 samples of another group from
this exon and 5 samples of exon 2A, 2B and healthy controls were
randomly sequenced. The results of sequencing confirmed the HRM
analysis, and one polymorphism (A65G) was identified in 2 atrial septal
defects with deviated curves. Conclusions The environmental and
effective factors on the heart development within embryonic evolution as
well as the possibility of the existence of the mutation in coding genes
of the other cardiac transcription factors such as GATA4 and TBX5 can be
the reasons for the lack of the pathogenic mutation in this study. It is
suggested in further related studies to investigate normal and abnormal
cardiac tissue samples of these studied patients and coding genes of the
other cardiac transcription factors.
