Download Molecular Genetic Pathology by Shaobo Zhang MD, Darrell D. Davidson MD, PhD, David Y. Zhang PDF

By Shaobo Zhang MD, Darrell D. Davidson MD, PhD, David Y. Zhang MD, PhD, MPH (auth.), Liang Cheng MD, David Y. Zhang MD, PhD, MPH (eds.)

Molecular Genetic Pathology offers updated fabric containing primary details proper to the medical perform of molecular genetic pathology. half I examines the scientific components of molecular biology, genomics, pharmacogenomics and proteomics, whereas half II covers the molecular parts of scientific genetics, microbiology, hematology, transfusion medication, oncology and forensic pathology. the amount offers a different reference for the practising pathologist and clinical geneticist in addition to a evaluate booklet for citizens and fellows in education in pathology, clinical genetics and molecular genetic pathology.

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SUGGESTED READING Anderson S, Bankier AT, Barrell BG. Sequence and organization of the human mitochondrial genome . Nature 1981;290:457--465. Lewis JD, Tollervey D. Like attracts like: getting RNA processing together in the nucleus . Science 2000;288:1385-1388. Blackburn EH. Structure and function of telomeres. Nature 1991;350: 569-573. Lindahl T, Wood RD. Quality control by DNA repair. Science 1999;286: 1897-1905. Brenner S, Jacob F, Meselson M. An unstable intermediate carrying information from genes to ribosomes for protein synthesis .

A maternal age curve showing the increase in the percent of livebirths with Down syndrome with increasing maternal age. STRUCTURAL REARRANGEMENTS-I NTRACHROMOSOMAL • Interchromosomal - Reciprocal translocations - Inversion - Dicentric, acentri c - Robertsonian translocations • Intrachromosomal (Figure 13) - 46 Deletion Ring Isochromosome Duplication Insertion Intrachromosomal Rearrangements Deletions (Figure 14) • Involves loss of part of a chromosome Results in monosomy of that segment of the chromosome - Large deletions will be incompatible with survival to term Principles of Clinical Cytogenetics 2-15 Terminal Deletion - - Interstitial Deletion Duplication Ring Isochromosome Fig.

23. RNA splicing is a modification of the molecule after transcription, in which introns of precursor messenger RNA (pre-mRNA) are removed and exons are joined. Splicing only occurs in eukaryotes. In panel A the exons are shown in colored boxes and introns are shown in lines. After transcription the introns form loops following the GU-AG rule, the loops are removed and the exons are joined to form mature mRNA. Panel B shows the two-step biochemical process of RNA splicing . Both steps involve transesterification reactions occur between approximated RNA nucleotides.

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