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8 Cards in this Set
- Front
- Back
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Briefly describe the structure of chromosomes |
made of chromatin (DNA protien complex) p= short arm q = long arm joined at centromere Euchromatin = light packed, undergoes transcription Heterochromatin = tight packed, no transcription See bands with Giemsa stain (binds AT rich DNA) |
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what is the principle of genome projects? |
Principle; genomic DNA - BAC (bacteria artificial chromosome) library - Contigs - Map - shotgun clones Public - international sequencing consortium (1990) -BAC library up to 2 million bp insert size - shotgun sequence each BAC clone and assemble sequence Private - Celera (1999) -shotgun library 500-800 bp insert) - random sequencing of clones - supercomputer to assemble |
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What kind of techniques were used in early genome projects? |
Traditional Nucleotide sequencing Manual Dideoxy - PCR many diff length frag Automated/Flourescent - each ddNTP has fluro tag in single tube Automated dideoxy - capillary w fluro tag |
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What are some of the findings of the human genome project? |
genome = 3.3 billion bp 20500 genes avg mRNA = 2500 bp <2% of genome is exons 50% is repetitive DNA ~75000 bases between genes ~2500 protien coding sequence mRNA 99% of sequence is identical in all people |
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What are the differences between Autonomous and Non-autonomous repetitive DNA in the genome |
Autonomous - LINES (6-8 kb), retrovirus like LTR transposons 6-11 kb, DNA transposon 2-3 Kb Non-Autonomous - SINES (100-300bp), Retrovirus like LTR transposons 1.5-3kb, DNA transposons 80b-1.5kb |
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What groups were studied in the 1000 genomes project? |
Asian, European, African, American whole genome 180 samples whole genome of 2 mother/father/adult/child 1000 gene regions in 900 samples |
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What did the 1000 genomes project find? |
95% of genome variants are common each person has 250-300 loss of functional variants 80-100 variants in inherited disorders 87.4 SNPs, 36 Million short insertions/deletions 60k structural variants all phased into high quality halotypes |
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Name the 3 types of nucleotide variation and their properties |
VNTR - 15-100 base repeats array length - 100b-20kb on telomeres only between genes, can be extracted with restriction enzymes changes through unequal chromosome recombination STR - 1-4 base repeats array length <100b waidley distributed in euchromatin can acquire changes through slipping SNPs - 1 nucleotide (must occur in >1% of pop) 1 in 500 bases can be detected with allele specific PCR (specific primers, only template with the SNP is seen in electrophoresis) |
