An Overview of Mutation Detection Methods in Genetic Disorders

Bahareh Rabbani; Nejat Mahdieh

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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An Overview of Mutation Detection Methods in Genetic Disorders

Author(s):

Bahareh Rabbani^1,*,

Nejat Mahdieh²

IJ Pediatrics:Vol. 23, issue 4; 375-388

Published online:Apr 28, 2013

Article type:Review Article

Received:Jul 04, 2013

Accepted:Apr 06, 2013

How to Cite:Bahareh RabbaniNejat MahdiehAn Overview of Mutation Detection Methods in Genetic Disorders.Iran J Pediatr.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.

Keywords

Cytogenetics

Chromosomal Aberration

Molecular Diagnostic Technique

Carrier Detection

Mutation

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