Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes
المؤلفون المشاركون
Khodyuchenko, Tatiana
Zlotina, Anna
Pervunina, Tatiana
Zverev, Dmitry
Malashicheva, Anna
Kostareva, Anna
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-3، 3ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-03-10
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الملخص EN
Background.
Congenital heart defects (CHDs) often have genetic background due to missense mutations in cardiomyocyte-specific genes.
For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (PDA).
In the present study, we further searched for mutations in human α-cardiac actin (ACTC1) and smooth muscle α-actin (ACTA2) genes as a possible cause of atrial septum defect type II (ASDII) and PDA.
Findings.
Total genomic DNA was extracted from peripheral blood of 86 individuals with ASDs and 100 individuals with PDA.
Coding exons and flanking intron regions of ACTC1 (NM_005159.4) and ACTA2 (NM_001613) were amplified by PCR with specific primers designed according to the corresponding gene reference sequences.
PCR fragments were directly sequenced and analyzed.
Sequence analysis of ACTC1 and ACTA2 did not identify any nucleotide changes that altered the coding sense of the genes.
In ACTC1 gene, we were able to detect one previously described nucleotide polymorphism (rs2307493) resulting in a synonymous substitution.
The frequency of this SNP was similar in the study and control group, thus excluding it from the possible disease-associated variants.
Conclusions.
Our results confirmed that the mutations in ACTC1 gene are rare (at least <1%) cause of ASDII.
Mutations in ACTA2 gene were not detected in patients with PDA, thus being excluded from the list of frequent PDA-associated genetic defects.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Khodyuchenko, Tatiana& Zlotina, Anna& Pervunina, Tatiana& Zverev, Dmitry& Malashicheva, Anna& Kostareva, Anna. 2015. Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes. BioMed Research International،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1054279
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Khodyuchenko, Tatiana…[et al.]. Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes. BioMed Research International No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1054279
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Khodyuchenko, Tatiana& Zlotina, Anna& Pervunina, Tatiana& Zverev, Dmitry& Malashicheva, Anna& Kostareva, Anna. Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1054279
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1054279
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر