HMB265H1 Lecture Notes - Lecture 10: Plasmid, Shotgun Sequencing, Genetic Screen

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burgundymule401

31 Jan 2018

School

UTSG

Department

Human Biology

Course

HMB265H1

Professor

Maria Papaconstantinou

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HMB265H1 Full Course Notes

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It took 10 years since it was found on chromosome 4 t be discovered. The methods they used to discover it back then we still use today, but they used single gene techniques. The first technique they used was linkage mapping. For linkage analysis in humans, we use pedigrees. A very large family was used to study huntings disease. In 1987 we found scientific markers that were so closely linked to the huntings disease gene that they were 1 centimorgan off. We are looking for markers that segregate with the particular trait, but are only about 1-5 centimorgan apart. We are trying to identify a very small part of the chromosome. In 1993, scientists used linkage analysis and positional cloning to pinpoint the particular gene that causes huntings disease. Since 1993, we are still trying to figure out the function of this gene.

Related Questions

Hutchinson-Gilford Progeria Syndrome (shortened to Progeria) is a genetic condition characterized by premature aging and is uniformly fatal by the late teens. The primary gene mutated in Progeria is Lamin A, but the Progeria field is STILL trying to figure out how the molecular defect in Lamin A translates into disease symptoms. When scientists were first investigating Lamin A function, they used phospho-specific antibodies to discover that Lamin A was always phosphorylated at serine 22 during cell division in healthy cells.

It is known that Lamin A normally gets âfarnesylatedâ after it is translated. Farnesylation occurs when a farnesyltransferase protein adds a hydrophobic lipid tail (called a farnesyl group) to the lamin protein. How would farnesylation of a protein affect its localization in a cell?

(tautomerization) The most common form of guanine is the ketoform, not the enol form.

True

False

What term describes the allowed degree of base pair matchingduring annealing, varying from lots of base-pair mismatches allowedto allowing only perfect base-pair matching.

stringency

aneuploidy

polyploidy

quantitative PCR

restriction fragment length polymorphism

I have an individual with a disease we will call SSI-itis,brought on by extreme exposure to cannabis. I do a southern andfind the gene affected. Another of his classmates exhibits theexact same symptoms, but that gene in hiw is wt. A southern in thesecond student finds a mutation in another gene. This is an exampleof

pleitropy

allelic heterogeneity

locus heterogeneity

dominant traits

recessive traits

penetrance

If a person carrying a dominant allele does not demonstrate thephenotype strongly, but still differs from wt, thisdemonstrates?

haploinsufficiency

penetrance

expressivity

monogenic traits

polygenic traits

I find three alleles for a gene in a fruit fly. One allelecreates the ability for the fly to eat graphite. Another allelecreates the ability for the fly to eat coal. The third alleleallows the fly to eat diamond. These alleles are all dominant, andwt cannot eat any of these substances. Which statement below is themost true?

Upon mating a bunch of the flies carrying these alleles, Ishould not find a fly that can eat graphite, coal, and diamond.

I would consider the ability to eat these substances an exampleof pleitropy because they are all carbon.

I would expect the ability to eat diamond to be dominant to theability to eat graphite.

These flies are demonstrating locusheterogeneity.

Expression vectors in prokaryotes do not make functionaleukaryotic gene products in bacteria very well because

the codon sequence for prokaryotes is different than the codonsequence in eukaryotes

there are no disulfide bridges formed in proteins normally madein prokaryotes

prokaryotic expression vectors cannot translate eukaryticsequences

eukaryotic genes have introns, and prokaryotes don't

eukaryotic genes have exons and prokaryotes don't

Which of the following is not used in PCR amplification ofDNA?

Double-stranded DNA template

Oligonucleotide primers

DNA polymerase

DNA ligase

ddNTPs

I create a knockout mouse using the agouti/black fur systemdiscussed in the online lecture and in the book. When I cross theagouti offspring of the originally engineered mouse, I find a ratioof 2 agouti mice to 1 black furred mouse. What is the bestexplanation?

The gene knocked out was recessive.

The gene knocked out was dominant.

The gene knocked out was a lethal gene.

The knockput was integrated into a random spot, and did notknockput the original gene.

A loss of function mutation is usually recessive, but canactually be a dominant mutation because of what effect?

haploinsufficiency

dominant negative mutations

allelic heterogeneity

locus heterogeneity

pleitropy

A genetic carrier of a disease can have a form of the diseasethat only shows intermittent symptoms, while the full homozygousrecessiuve individual would show all of the symptoms of thedisease.

True

False

Wild type, or wt, refers to the genotype that is the typicalgenotype found in nature. Now read that again. Once more. Nowanswer.

Answer

True

False

mauvekangaroo793

On the Edge Selling Personalized Genetics

Several companies on the Internet sell genetic tests directly to consumers including 23andMe, Navigenics, decode Genetics, DNA Tribes, Genelex, ScientificMatch, Consumer Genetics, Salugen, DNAprint Genomics, Genova Diagnostics, Suracell, and many more. The companies ask customers to collect a sample of their genes with a cheek swab and send it to them for testing. Most test by putting the customerâs gene sample on a small flat âDNA microarray chipâ that already contains pieces of DNA matching known genes (or gene mutations). If one of the customerâs genes matches one of the pieces of DNA on the chip, it binds to the DNA fragment which creates a tiny fluorescent glow showing that the gene indicated by the DNA fragment is in the sample. A computer then analyzes the pattern of glowing spots on the chip and prints out a list of the genes (or gene mutations) in the customerâs sample. Scientists have discovered a few genes that are associated with specific diseases or personal characteristics. Studies found, for example, genes that are linked to cystic fibrosis, Tay Sachs disease, and Lou Gehrigâs disease, genes that increase the risk of certain breast, colon, and thyroid cancers, and genes associated with sensation seeking, eye color, obesity, and lactose intolerance. They also found that some genes are more often found in people whose ancestors came from certain regions of the world. The companies say that based on these studies and their own gene tests, they can give customers valuable personalized information (for a price, of course). One company, Sciona, (no longer operating) said on its website: âSciona is a leader in nutrigenomics, the science of personalizing your nutrition and lifestyle choices to match your genesâ; Sciona gave customers âa personalized preventative dietary regimeâ that was supposed to prevent the diseases their genes put them at risk for. Another site promises: âBased upon the . . . [genetic] analysis, Suracell recommends to each client a personalized regimen of nutraceuticals [vitamin supplements].â Another states: âDNA Tribes . . . uses genetic material . . . to measure your genetic connections to individual ethnic groups and major world regions.â Another company claims to do it all: âWith a simple saliva sample weâll help you gain insight into your traits, from baldness to muscle performance. Discover risk factors for 95 diseases. Know your predicted response to drugs, from blood thinners to coffee. And uncover your ancestral origins.â Critics claim, however, that with a few exceptions, most studies have shown only weak connections between genes and specific traits, disease risks, drug responses, nutritional or vitamin needs, or ancestral origins. Many studies that link specific genes to a disease are only preliminary and the full picture has not yet been worked out. Moreover, critics say, it is wrong to tell customers their genes put them at risk of a deadly disease without proper counseling, especially when the scientific studies are weak and many other environmental, demographic, and lifestyle factors determine the actual onset of a disease. Ordinary consumers, they conclude, are being sold a product that they do not have the expertise to interpret. But defenders of the tests say consumers have a right to know what genes they carry and what science has learned about those genes. The companies charge from $140 to test for two or three genes, up to $999 to test for a full suite of genes. Evaluate the ethics of selling gene tests directly to consumers like these companies are doing. What would each of the three theories of a businessâs duties to consumers say about what the companies are doing? Under what conditions do you think selling the tests would be ethically legitimate? Check out the video of GAO interviews of gene-test company salespeople at http://www.gao.gov/products/gao-10-847t .

Based on this issue evaluate the ethics of selling gene tests directly to consumers. Watch the video showing GAO interviews of the gene-test company salespeople and evaluate the ethics of the selling practices shown on the video. Answer the following questions:

1. What would the three theories of business's duties to consumers say about what the companies are doing?

2. Is it ever ethical for direct-to-consumer selling of these tests?

3. Should the government-on its own discretion-be able to use the DNA data in the databases to solve crimes and catch criminals?

http://www.gao.gov/products/GAO-10-847T

HMB265H1 Lecture Notes - Lecture 10: Plasmid, Shotgun Sequencing, Genetic Screen

HMB265H1 Full Course Notes

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