By Ruth A. Heim (auth.), Iris Schrijver (eds.)
The distinctiveness of molecular genetic pathology (MGP) makes a speciality of the molecular identity of inherited genetic stipulations, received genetic ailments, and infectious ailments. This solely case-based booklet covers a huge cross-section of the sensible concerns usually encountered within the day by day actions of a molecular genetic pathologist. The ebook is split into 4 sections at the primary components addressed in MGP: inherited illnesses, hematopathology, sturdy tumors, and infectious illnesses. the themes coated by means of the instances in every one part comprise try choice, qualitative and quantitative laboratory options, try out interpretation, prognostic and healing concerns, moral concerns, technical troubleshooting, and consequence reporting. This booklet is designed for trainees in MGP and medical molecular genetics who require a practice-based training for board examinations. it's going to even be very valuable for citizens and fellows in clinical specialties to which MGP is pertinent, and for training pathologists who are looking to examine extra in regards to the present perform of molecular diagnostics.
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Additional resources for Diagnostic Molecular Pathology in Practice: A Case-Based Approach
167delT is the most common mutation in Ashkenazi Jewish individuals. 235delC is the most commonly identified pathogenic variant in Asian populations, with a carrier frequency of approximately 1%. 223C > T is a GJB2 mutation associated with dominant inheritance and syndromic, instead of nonsyndromic, hearing loss. 2. The correct answer is E. Both a frameshift mutation and a nonsense mutation result in premature termination of the protein. These mutations are typically pathogenic. In-frame deletions leave the reading frame intact and may have small effects on the protein made.
While it occurs less frequently, inheritance of the “null” chromosome with no PMP22 copy results in a different neurologic syndrome, HNPP. There is no evidence for localized gene amplification, overexpression of the PMP22 gene, or improper chromosomal segregation which could potentially lead to isodisomy. 2. The correct answer is A. The correct answer is 1. Universal means exactly what it implies. Universal PCR amplification primers bind to the same sequences engineered at the 5¢ and 3¢ ends of each DNA species produced when adjacentlybound probes, targeting various regions associated with deletion/duplication of the PMP22 gene or other genomic regions used to normalize for diploid gene dosage, are ligated.
The correct answer is E. A normal HbA2 level excludes beta thalassemia, except in rare instances such as delta–beta thalassemia. 4. The correct answer is B. A point mutation near the middle of the intron is usually silent, except in rare circumstances, for example when it makes a cryptic splice site fully functional and alters normal mRNA splicing patterns. C. F. Tait 5. The correct answer is C. The Globin Gene Server  is the most authoritative online compilation of mutations in the alpha and beta globin gene clusters.
Diagnostic Molecular Pathology in Practice: A Case-Based Approach by Ruth A. Heim (auth.), Iris Schrijver (eds.)