کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2178021 1549628 2014 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Reduced penetrance in human inherited disease
ترجمه فارسی عنوان
کاهش نفوذ در بیماری های ارثی انسان
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
چکیده انگلیسی

For many inherited diseases, the same mutation is not always expressed in all persons who carry it, moreover, when the mutation is expressed, it is not always expressed in the same way. These findings are the basis for the concepts of penetrance and expressivity. Understanding the factors that control penetrance of disease genes will provide insight into the fundamental disease processes and will help in genetic counselling.With the advancement of molecular genetics over the last few years, some of the underlying mechanisms of reduced penetrance have been elucidated. These include, mutation type, allelic variations in gene expression, epigenetic factors, gene-environment interplay, influence of age and sex, allele dosage, oligogenic and digenic inheritance mutations, modifier genes, copy number variations as well as the influence of additional gene variants and the effect of single nucleotide polymorphisms.The aim of this review is to clarify factors affecting gene penetrance as well as some of the underlying molecular mechanisms in some genetic disorders.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 15, Issue 2, April 2014, Pages 103–111
نویسندگان
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