An Overview of Mutation Detection Methods in Genetic Disorders

authors:

avatar Bahareh Rabbani 1 , * , avatar Nejat Mahdieh 2

Iranian Journal of Pediatrics: Vol.23, issue 4; 375-388
published online: April 28, 2013
article type: Review Article
received: July 04, 2013
accepted: April 06, 2013

how to cite: Rabbani B, Mahdieh N. An Overview of Mutation Detection Methods in Genetic Disorders. Iran J Pediatr. 2013;23(4): 375-388. 

Abstract

Genetic disorders are traditionally categorized into three main groups: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies. Characteristic features of patterns of inheritance are briefly reviewed and a short description of chromosomal disorders is also presented. In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. The purpose is to make pediatricians familiar with the applications of cytogenetic and molecular techniques and tools used for genetic diagnosis.

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