By Gregory A. Hosler, Kathleen M. Murphy (auth.)
Molecular diagnostics is an exploding box, and up to date advances in our knowing of the molecular foundation of illness have supplied a platform for the advance of recent diagnostic exams in addition to exams to foretell tumor habit and capability reaction to exact treatment. This textbook offers a reference and useful consultant to molecular diagnostics for dermatologists and dermatopathologists. It outlines our present realizing of the molecular underpinnings of dermatologic illness, describes the best use of presently to be had molecular checks, and explains the translation of those exams within the context of analysis and administration. exams with regards to a variety of issues are lined, together with yet no longer limited to cancer, genodermatoses, and infectious ailment. Pitfalls are highlighted and elementary algorithmic techniques, presented.
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Extra info for Molecular Diagnostics for Dermatology: Practical Applications of Molecular Testing for the Diagnosis and Management of the Dermatology Patient
Ncbi. gov/omim. 2 Clinical Genetic Testing Genetic testing is often not required to make a diagnosis of an inherited genetic disorder. For example, diseases such as sickle cell anemia and hemophilia can be diagnosed based on the analysis of the protein product of the affected gene. This is an important concept when considering what constitutes a genetic test and which tests should be governed by regulations such as requirements for informed consent and access to genetic counselors. Although genetic tests are used at times to make diagnoses, they are more frequently used to identify individuals at risk for a particular disease or to determine the risk of having offspring with a particular disease.
Nomenclature for chromosomal number and structural alterations is discussed in Chap. 3. Finally, there are sequence alterations. Sequence alterations that occur in gene-coding regions can have three different outcomes. The nucleic acid change may (1) result in no change to the amino acid sequence of a protein (silent), (2) result in a change to the amino acid sequence of the protein (missense), or (3) result in the formation of a stop codon, which prematurely terminates protein production (nonsense).
Although the remaining 95 % was originally thought of as “junk DNA” because it did not directly code for proteins, we now know that these noncoding regions in DNA play essential cellular roles. Repetitive regions in noncoding DNA help to maintain the stability of DNA and protect it from damage and loss. Other noncoding regions function to ensure proper segregation of newly synthesized DNA into daughter cells during cell division. In addition, noncoding regions play important roles in regulating gene expression of the coding regions.