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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 23, No. 4, 2013, pp. 375-388
Bioline Code: pe13075
Full paper language: English
Document type: Review Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 23, No. 4, 2013, pp. 375-388

 en An Overview of Mutation Detection Methods in Genetic Disorders
Mahdieh, Nejat & Rabbani, Bahareh


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.

Cytogenetics; Chromosomal Aberration; Molecular Diagnostic Technique; Carrier Detection; Mutation

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