Author/Authors :
YENER, İnci Hande Hacettepe Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji Anabilim Dalı, Türkiye , ERDEN, Didem DAYANGAÇ Hacettepe Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji Anabilim Dalı, Türkiye
Title Of Article :
Monogenic disorders and modifier genes: Is genotype predictive of phenotype?
Abstract :
Although monogenic disorders are caused by mutations in one gene, phenotypic variability occurs in patients with the same genotype and disease expressivity changes. Modifier genes are one of the main factors that affect disease severity. In monogenic disorders such as spinal muscular atrophy (SMA), familial Mediterranean fever (FMF) or cystic fibrosis (CF), more than one gene that modifies the course of the disease has been detected. High throughput techniques used in the genomics field will provide functional research on modifier genes, pave the way to establish genotype-to-phenotype correlations and explain the pathophysiology of diseases. The modifier genes which are associated with the most common monogenic disorders in our population and their functions are summarized in this review.
NaturalLanguageKeyword :
Monogenic disorders , Modifier genes , Genotype , to , phenotype correlations
JournalTitle :
Marmara Medical Journal