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Frontiers of genetic

How is the genome sequencing performed? use bases that terminate polymerisation because they lack a 3' OH.
How does Fluorescent dideoxy-NTPs work? label 4 dideoxynucleotides with 4 different coloured fluorescent dyes amd run them in 1-D capillary. Have camera watching colour chnage.
How does next generation sequencing work? get genome, shot gun sequence, fragmentation, sequence at same time, millions of short sequences, use technologies such as illumina on a chip.
Define exome sequencing: only exons or protein-coding genes are sequences. Quicker and cheaper, isolation methods are based on libraries of 100,000s of oligonucleotide sequences that allow exon DNA to be isolated.
What is TCGA? The cancer genome atlas. Comprehensive database of key genomic changes in types of cancer based on tissue samples of 11,000 patients.
What is ENCODE? Encyclopedia of DNA Elements project, aim to identify all functional elements in human genome, not just sequence.
What does the FDA now allow 23andme to do? 2017 - approves selling tests for genetic ridk for 10 diseases e.g. Alzheimer's, Parkinson's etc. 2018 - approves tests for 3 allele of BRCA genes (well known risk gene for cancers e.g. breast, ovarian, prostate).
What did scientists discover about Nicholas Volker? He had a severe case of Crohn's disease, Doc used exome sequencing. 16,000 single nucleotide variants compared with reference sequence. 70 homozygous variants that affected protein sequence...eventually 1 variant left - mutation in XIAP.
What is a XIAP mutation? X-linked Inhibitor of Apoptosis - G-->A. Cysteine --> Tyrosine. Variant wasn't found in search of 2000 human control sequences or in orthologous genes from other species.
How was Nicholas treated? hematopoietic progenitor cell transplant - his own hematopoietic stem cells were destroyed with chemo and then replaced by an infusion of cord blood - to reestablish his immune system.
Define gene therapy: use of recombinant DNA to treat a disease or disorder by altering the genetic makeup of the patient's cells.
What are some considerations to take into account for gene therapy? - mechanism for introducing DNA - viral vs non-viral approaches. - targetting location - random position in the genome; known locus with appropriate expression; the locus of the gene itself.
What is a new treatment for haemophiliacs? Adenovirus-Associated Virus for gene therapy. Single infusion of AAVFIX virus. Expression of FIX at 2 to 11% of normal levels was observed in all haemophiliacs. 4/6 discontinued prophylaxis and remained free of spontaneous hemorrhage.
What are advantages of gene therapy? doesn't produce a big immune response; can infect dividing and non-dividing cells; DNA can persist in cell for a long time, but doesn't insert randomly into genome (and cause mutations). Disadvantage: gene size limited to ~5kb.
Created by: lmdavis97