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An Overview of Mutation Detection Methods in Genetic Disorders

AUTHORS

Bahareh Rabbani 1 , * , Nejat Mahdieh 2

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

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 23 (4); 375-388
Published Online: April 28, 2013
Article Type: Review Article
Received: July 04, 2013
Accepted: April 06, 2013

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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.

Keywords

Cytogenetics Chromosomal Aberration Molecular Diagnostic Technique Carrier Detection Mutation

© 0, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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