Taking an Active Role in Health Care by Learning About Genetic Predisposition for Different Illnesses

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An overview of mutation detection methods in genetic disorders. Iranian Journal of Pediatrics. 2013;23(4):375-388. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883366/. Accessed February 3, 2014. This research paper outlines common mutation detection methods used in genetic counseling to uncover preexisting genetic conditions. There are three main groups: single gene (errors in DNA sequence), chromosomal (structural damages) and multifactorial disorders. Molecular and cytogenetic techniques were discussed. The article stresses that an accurate diagnosis is essential for appropriate treatment. It reviews patterns of inheritance and describes a few chromosomal disorders. The concentration of these detection methods are focused on the …show more content…
An overview of mutation detection methods in genetic disorders. Iranian Journal of Pediatrics. 2013;23(4):375-388. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883366/. Accessed February 3, 2014. This research paper outlines common mutation detection methods used in genetic counseling to uncover preexisting genetic conditions. There are three main groups: single gene (errors in DNA sequence), chromosomal (structural damages) and multifactorial disorders. Molecular and cytogenetic techniques were discussed. The article stresses that an accurate diagnosis is essential for appropriate treatment. It reviews patterns of inheritance and describes a few chromosomal disorders. The concentration of these detection methods are focused on the diagnosis of pediatric genetic diseases. Cytogenetic techniques covered include karyotyping, fluorescence in situ hybridization (FISH) and comparative genome hybridization. Molecular techniques include polymerase chain reaction (PCR), DNA sequencing, DNA microarray and gel electrophoresis.

Article Type: Research Paper

Comments: I like this research paper because it very clearly summarized mutation types and detection techniques. It also gave a good review of patterns of inheritance. In order to conduct future research on the outcomes of genetic counseling, it is eminent that we are aware of all the different methods and their strengths and limitations. The article emphasizes the importance of accurate testing and diagnosis, particularly in

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