What are The Effects of Mutations on Gene Expression and Function?
Introduction
Mutation: any changes in the sequence in the genetic material which leads to disorders or abnormal physiological function are collectively called Mutations.
Mutation in coding as well as non-coding regions can affect the gene expressions. Mutation in coding regions directly affects the gene expression in the form of altered or no protein synthesis ultimately no gene expressions.
Mutation in coding sequence such as deletion, inversion, duplication, translocation also causes abnormal gene expression.
If there is any missing or deleted sequence or nucleotides in the genome this can be referred to as Deletion mutation. Example Deletion of 5p causes Cri du chat syndrome.
Inversion occurs when there is double breakage in the chromosomes and the sequence inverts 180 degree, this also leads to several disorders.
Duplication referred as when there is additional copy of nucleotides in the gene sequence, this can cause over expression of gene.
Translocation occurs when there is interchange of particular segment of DNA strand between the chromosomes, this can cause serious disorders like cancer, for eg CML (Chronic myeloid leukaemia) is caused by Translocation between chromosome number 9 and 22 i.e. Philadelphia chromosomes.
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