دورية أكاديمية
أعرض في EDS

Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects

التفاصيل البيبلوغرافية
العنوان: Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects
المؤلفون: Ji-Yang Zuo, Huan-Xin Chen, Zhi-Gang Liu, Qin Yang, Guo-Wei He
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
بيانات النشر: BMC, 2022.
سنة النشر: 2022
المجموعة: LCC:Internal medicine
LCC:Genetics
مصطلحات موضوعية: Ventricular septal defect, MYH6, Genetic, Variants, Congenital heart disease, Internal medicine, RC31-1245, Genetics, QH426-470
الوصف: Abstract Background Ventricular septal defect is the most common form of congenital heart diseases. MYH6 gene has a critical effect on the growth and development of the heart but the variants in the promoter of MYH6 is unknown. Patients and methods In 604 of the subjects (311 isolated and sporadic ventricular septal defect patients and 293 healthy controls), DNA was extracted from blood samples and MYH6 gene promoter region variants were analyzed by sequencing. Further functional verification was performed by cellular experiments using dual luciferase reporter gene analysis, electrophoretic mobility shift assays, and bioinformatics analysis. Results Nine variants were identified in the MYH6 gene promoter and two of those variants [g.4085G>C(rs1222539675) and g.4716G>A(rs377648095)] were only found in the ventricular septal defect patients. Cellular function experiments showed that these two variants reduced the transcriptional activity of the MYH6 gene promoter (p
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1755-8794
Relation: https://doaj.org/toc/1755-8794
DOI: 10.1186/s12920-022-01365-y
URL الوصول: https://doaj.org/article/47f4929b078742e3acc7da020f3f74ee
رقم الأكسشن: edsdoj.47f4929b078742e3acc7da020f3f74ee
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17558794
DOI:10.1186/s12920-022-01365-y