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1392/5/9، جلد ۲۳، شماره ۴، صفحات -
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
An Overview of Mutation Detection Methods in Genetic Disorders |
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| چکیده انگلیسی مقاله |
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. Key Words: Cytogenetics; Chromosomal Aberration; Molecular Diagnostic Technique; Carrier Detection; Mutation |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
9574---9575--- |
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| نشانی اینترنتی |
http://ijp.tums.ac.ir/index.php/ijp/article/viewArticle/1532 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Review Article |
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