title: An overview of mutation detection methods in genetic disorders.
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.
authors.affiliation: Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
authors.affiliation: Medical Genetic Group, Faculty of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran ; Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Bahareh
authors.initials: B
authors.lastname: Rabbani
keywords: Carrier Detection; Chromosomal Aberration; Cytogenetics; Molecular Diagnostic Technique; Mutation