Chemical Diagnostics: From Bench to Bedside by Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)

By Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)

Рассказывается, главным образом, о новых методах клинической диагностики. Contents subsequent iteration Sequencing: Chemistry, expertise and functions, by means of P. Hui program of subsequent iteration Sequencing to Molecular analysis of Inherited ailments, by way of W. Zhang, H. Cui, L.-J.C. Wong scientific purposes of the newest Molecular Diagnostics in Noninvasive Prenatal analysis, by means of K.C.A. Chan The position of Protein Structural research within the subsequent iteration Sequencing period, by way of W.W. Yue, D.S. Froese, P.E. Brennan rising functions of Single-Cell Diagnostics, via M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput medical Biomarker Assays: a number of response tracking, via C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in scientific Diagnostic purposes, by means of E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon program of Mass Spectrometry in baby Screening: approximately either Small Molecular illnesses and Lysosomal garage illnesses, through W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu

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It is clear that, without careful validation, MPS at its present shape cannot be reliably and widely used in clinical setting for diagnosis of genetic diseases. Another aspect of the complexity is establishing the physiological and pathological significance of a genetic variant in an individual’s genome. P479L) mutation of the CPT1A gene is debatable due to its high frequency and low penetrance in the Inuit population [110, 111]. The sequencing errors generated during an MPS run may not be a big problem for the purpose of gene discovery and other research applications, as these studies often involve multiple family members or multiple unrelated pedigrees with the same disease, which could be used for internal validation [52, 53].

MFS is a common (1 in 5,000) autosomal dominant connective tissue disorder, characterized by tall stature with long limbs, dislocated lens, and severe cardiovascular manifestation including aorta aneurysms [58, 59]. The majority of mutations causing MFS are missense, nonsense, and small insertion/deletions in the FBN1 gene encoding the fibrillin-1 protein. Due to the large number of exons, sequencing by PCR/Sanger is very time consuming and costly. Baetens et al. developed a multiplexed PCR based-MPS approach to sequence simultaneously all exons in 87 samples [46].

The authors demonstrated the ability of MPS to detect reliably mtDNA heteroplasmy down to 5% level and with high sensitivity but poor specificity for variant detection. This method had the advantages of cost effectiveness and fast turnaround time, but cannot detect large mtDNA deletions or mtDNA copy number variation and may include incorrect mtDNA heteroplasmy at certain nucleotide positions. Cui et al. have recently developed a one-step comprehensive analysis of mtDNA by MPS that provides accurate detection of point mutations at every single nucleotide position of the entire mitochondrial genome and determination of large deletions with deletion heteroplasmy and exact breakpoints [71].

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