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Ilam University of Medical Sciences

An Overview of Mutation Detection Methods in Genetic Disorders

Sun Aug 14 02:43:23 2022

(2013) An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics. pp. 375-388. ISSN 2008-2142

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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.

Item Type: Article
Creators:
CreatorsEmail
Mahdieh, N.UNSPECIFIED
Rabbani, B.UNSPECIFIED
Keywords: Cytogenetics Chromosomal Aberration Molecular Diagnostic Technique Carrier Detection Mutation comparative genomic hybridization heteroduplex analysis molecular-genetics chain-reaction disease DNA amplification deletions polymorphisms mechanisms Pediatrics
Divisions:
Page Range: pp. 375-388
Journal or Publication Title: Iranian Journal of Pediatrics
Journal Index: ISI
Volume: 23
Number: 4
ISSN: 2008-2142
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/714

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