AN OVERVIEW OF MUTATION DETECTION METHODS IN GENETIC DISORDERS

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MAHDIEH NEJAT; RABBAN BAHAREH

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Journal Paper

Paper Information

Journal: Iranian Journal of Pediatrics Year:2013 | Volume:23 | Issue:4 Page(s): 375-388

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Information Journal Paper

Title

AN OVERVIEW OF MUTATION DETECTION METHODS IN GENETIC DISORDERS

Author(s)

MAHDIEH NEJAT | RABBAN BAHAREH | Issue Writer Certificate

Keywords

CYTOGENETICS

CHROMOSOMAL ABERRATION

MOLECULAR DIAGNOSTIC TECHNIQUE

CARRIER DETECTION

MUTATION

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.

Cites

Analysis of KRAS gene mutation associated with Helicobacter pylori infection in patients with gastric cancer

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APA: Copy

MAHDIEH, NEJAT, & RABBAN, BAHAREH. (2013). AN OVERVIEW OF MUTATION DETECTION METHODS IN GENETIC DISORDERS. IRANIAN JOURNAL OF PEDIATRICS, 23(4), 375-388. SID. https://sid.ir/paper/653978/en

Vancouver: Copy

MAHDIEH NEJAT, RABBAN BAHAREH. AN OVERVIEW OF MUTATION DETECTION METHODS IN GENETIC DISORDERS. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2013;23(4):375-388. Available from: https://sid.ir/paper/653978/en

IEEE: Copy

NEJAT MAHDIEH, and BAHAREH RABBAN, “AN OVERVIEW OF MUTATION DETECTION METHODS IN GENETIC DISORDERS,” IRANIAN JOURNAL OF PEDIATRICS, vol. 23, no. 4, pp. 375–388, 2013, [Online]. Available: https://sid.ir/paper/653978/en

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