Diagnostic Molecular Pathology in Practice: A Case-Based by Ruth A. Heim (auth.), Iris Schrijver (eds.)

By Ruth A. Heim (auth.), Iris Schrijver (eds.)

The area of expertise of molecular genetic pathology (MGP) makes a speciality of the molecular identity of inherited genetic stipulations, got genetic ailments, and infectious illnesses. This fullyyt case-based booklet covers a extensive cross-section of the sensible concerns often encountered within the daily actions of a molecular genetic pathologist. The e-book is split into 4 sections at the critical components addressed in MGP: inherited ailments, hematopathology, reliable tumors, and infectious ailments. the themes lined by way of the situations in each one part contain attempt choice, qualitative and quantitative laboratory strategies, attempt interpretation, prognostic and healing issues, moral concerns, technical troubleshooting, and consequence reporting. This publication is designed for trainees in MGP and medical molecular genetics who require a practice-based education for board examinations. it is going to even be very invaluable for citizens and fellows in clinical specialties to which MGP is pertinent, and for training pathologists who are looking to research extra concerning the present perform of molecular diagnostics.

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28 5. The correct answer is A. The family history provided is strongly suggestive of a sex-linked disorder. CMTX is associated with mutations in the Connexin 32 (GJB1) gene on the X chromosome. It would be important to confirm with the clinician the absence of any male-to-male transmission in the pedigree. If identified, this would suggest the likelihood of autosomal dominant transmission with a serendipitous distribution affecting only males. When a large number of male-only CMT cases are observed in a family, the statistical likelihood of autosomal dominant transmission becomes very small.

Whereas hearing loss can be caused by environmental factors, genetic defects, or a combination of both, in western nations at least 50% of prelingual hearing loss is estimated to have a genetic etiology. The cause remains obscure in approximately 25%, but most of these cases are assumed to have a genetic basis as well. Thus, genetic causes account for the largest proportion of I. 1007/978-3-642-19677-5_5, © Springer-Verlag Berlin Heidelberg 2011 29 30 I. Schrijver p­ relingual hearing loss [2].

For the MLPA procedure which employs hybridization probes directed at the five exons of the PMP22 gene, followed by PCR amplification using universal primers, how many units of 83898 are you allowed to code for the amplification portion of the MLPA procedure? 5 3. Compromise of sensory neural function only and normal nerve conduction velocity 4. If it were shown through other studies that the CMT-affected boy in this case inherited the duplicated PMP22 gene on a maternal chromosome, then what is the most likely risk of the mother having another CMT-affected child?

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