نوع مقاله : مقاله های پژوهشی
نویسندگان
1 کارشناسی ارشد، گروه ژنتیک، دانشکدهی علوم پایه، مؤسسه آموزش عالی آل طه، تهران، ایران
2 استادیار، گروه ژنتیک، دانشکدهی علوم پایه، مؤسسه آموزش عالی آل طه، تهران، ایران
3 دکتری تخصصی، مرکز قلب و عروق شهیدرجایی، دانشگاه علوم پزشکی ایران، تهران، ایران
4 استادیار، مرکز تحقیقات کاردیوژنتیک، مرکز قلب و عروق شهیدرجایی، دانشگاه علوم پزشکی ایران، تهران، ایران
چکیده
تازه های تحقیق
فاطمه اکبریان: Google Scholar
پریسا علی دوست سلیمی: Google Scholar
سمیرا کلائی نیا: Google Scholar
کلیدواژهها
موضوعات
عنوان مقاله [English]
نویسندگان [English]
Background: Hypertrophic cardiomyopathy and dilated cardiomyopathy appear with diverse clinical manifestations and genetic history. Exome sequencing provides the possibility of a comprehensive examination of the protein-coding regions of the genome and the identification of rare and potentially pathogenic variants related to these conditions. Facilitates The data obtained from exome sequencing can provide a broader insight into the molecular mechanisms that affect the pathogenesis of hypertrophic and dilated cardiomyopathy.
Methods: Blood samples were collected from 2 patients and their families with Hypertrophic and Dilated Cardiomyopathy. Their DNA was extracted using the salting out method. Patient samples were sent to South Korea's Macrogen Company for exome sequencing and the raw data was analyzed at the Shahid Rajaei Heart and Vascular Center. Primer and PCR design for candidate variants and trench sequencing were done for patients and their families.
Findings: In this study, two different variants, one in TPM1 gene (c.466G>A:p.E156K) and another in ACTN2 gene (c.2648C>T:p.A883V), both in family A and one variant in NRAP gene (c.2218C>T:p.R740X) was identified in family B. Mutations found in patients were confirmed and segregated in family members.
Conclusion: The results of the present study show that examining TPM1, ACTN2, and NRAP genes in families with people with cardiomyopathy can help diagnose the cause of the disease and identifying people at risk in the family.
کلیدواژهها [English]