کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2932090 1576290 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy
چکیده انگلیسی

Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular genetic disorder, and can result in heart failure and sudden death in the young. No mutation is identified in up to 50% of cases of HCM following comprehensive analysis of known causal genes, however standard methods overlook large deletions and duplications. The multiple ligation-dependent probe amplification method was used to screen for large deletions and duplications in the myosin-binding protein-C (MYBPC3) and cardiac troponin T (TNNT2) genes in patients with HCM. One novel 3 base pair deletion was identified in MYBPC3 in a severely affected patient; however this change was also found in an unaffected relative. No alterations in the TNNT2 gene were identified. In conclusion, large deletions and duplications do not appear to play a major role in the pathogenesis of HCM.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Cardiology - Volume 145, Issue 1, 5 November 2010, Pages 150–153
نویسندگان
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