BCH3031 Lecture Notes - Lecture 21: Single-Nucleotide Polymorphism, Human Genome Project, Intergenic Region

49 views4 pages

olivehare589

25 May 2018

School

Department

Course

Professor

For unlimited access to Class Notes, a Class+ subscription is required.

Jackie Wilce – Technologies for Treatment of Disease and Infection

Lecture 21 – Beyond the Human Genome Project

Beyond the Human Genome Project

• Planned for 15 years

• Sequence 3 billion bp – information is publicly available

• 1,000 scientists in 16 institutes participated worldwide

Single Nucleotide Polymorphisms

• Have 3 billion bases from each of our parents

• Genes of 2 random people differ by 1 base per 1000

o Differences known as single nucleotide polymorphism (SNPs)

• SNP: a single nucleotide polymporphism is a DNA sequence variation

occurring when a single nucleotide – A,T,C,G in genome differs between

members of a species

o Occurs frequency in population – common differences between us:

must occur in at least 1% of population

• Can occur in exons, introns or intergenic sequences

• ~50% of SNPs are in non-coding regions

o Can impact on promoter activity or pre-mRNA conformation or

stability

o Mutation in promoter region can impact on gene product → results in

more or less transcription of coding region → more or less of protein

encoded

• 25% SNPs cause missense mutations (mutate protein)

o Impact ligand binding, subcellular localisation, stability

• Remaining 25% are silent

SNPs in Disease

• Contribute to phenotypic variation (risk to disease)

• Central goal of genetics – to pinpoint DNA variants that contribute to human

variation

• 2 SNPs in gene encoding apolipoprotein E

o Most common is two T’s in apolipoprotein E (E2 variant)

o Some have C instead of T in either or both positions →

greatly increases the susceptibility of person to Alzheimer’s

disease

o If homozygous for E4 – most chance of Alzheimers disease

• Programs for detection of Genes underlying Disease and Disease

Susceptibility

o SNS identification and Genome Wide Association (GWA)

→ used to correlate common mutations with disease and disease

susceptibility

o HapMap Project – bunch of SNPS exist in human genomes

o Outcomes: include prediction of disease, prediction of drug responses

(pharmacogenetics) or development of treatments and cure

find more resources at oneclass.com

Unlock document

This preview shows page 1 of the document.
Unlock all 4 pages and 3 million more documents.

Already have an account? Log in

Related Questions

You decide to identify the CFTR mutation by analyzing the genomic DNA of your patients compared to healthy individuals. You specifically are looking to see whether a specific 3' gene truncation has occurred in the patients. You will determine this using hybridization techniques with samples from healthy and CF patients. Which of the following will allow you to accomplish this?

	Using an RNA probe complementary to the region not removed by the truncation.
	Using an RNA probe complementary to the region removed by the truncation.
	Using an DNA probe complementary to the region not removed by the truncation.
	Using an DNA probe complementary to the region removed by the truncation.

To conduct the hybridization experiment, you are trying to decide between using a DNA or RNA probe. Which would be ideal to use and why?

	As both are composed of nucleic acids, using either would result in identical results.
	An RNA probe because RNA has uracil bases.
	An RNA probe because it could also be used in a translation experiment.
	A DNA probe because it is more stable than RNA.
	A DNA probe because RNA cannot bind to DNA.

Imagine Hershey/Chase had used an RNA virus (genome composed of RNA) instead of a DNA virus in their experiment. Would radioactivity still have been found in the pellet?

	No, because only DNA can be labeled with radioactivity.
	No, because the RNA genome would not enter the bacteria upon infection.
	No, because while DNA and RNA nucleotides are similar, they are not identical.
	Yes, because DNA and RNA nucleotides are similar.
	Yes, because genome in any form (DNA, RNA, protein) would be labeled similarly.

The human genome consists mostly of non-coding DNA. Which of the following are benefits of this?

	Random DNA mutations generally won't affect RNA and protein function.
	It is faster to duplicate the genome when these are present.
	The existence of introns can lead to multiple variations of proteins encoded by a single gene.
	It is unlikely transposons would exist in the genome if there was too much protein coding DNA.

You accidentally add a mutant dNTP (which has an H instead of an OH connected to the 3â carbon) to a reaction where DNA is being replicated. Which of the following is true of this mutant dNTP?

	It can be incorporated into DNA strand but cannot form a phosphodiester bond with an incoming wild type dNTP
	It can be incorporated into a DNA strand but cannot base pair with a complementary nucleotide
	It can be incorporated into a DNA strand and can form a phosphodiester bond with an incoming dNTP, but only if it is another mutant dNTP
	It cannot be incorporated into a DNA strand.

Andrew Murray's sister, Andrea, is adding to her brother's work on chromosomes. She is using cells that are unable to synthesize adenine (âade) and histidine (âhis). The plasmid she is currently working with consists of an origin of replication and the Ade gene.

Following her transformation of the plasmid into her yeast, what media will the cells be plated on to select for cells that have picked up the plasmid?

	Media containing histidine
	Media containing adenine
	Media lacking adenine
	Media lacking histidine

She starts by attempting to add the centromere DNA into a plasmid containing the origin of replication. Unfortunately, when adding the centromere sequence, the origin of replication is removed, thus leaving a plasmid with only a centromere and selection marker. Following plasmid transformation, what growth result will she see on her plates?

	No colonies
	Little colonies
	Big colonies

She fixes the mistakes from the previous experiment and now has a complete plasmid (selection marker, origin of replication, centromere). She then inserts telomere sequences into the plasmid. How will this impact her transformation?

	It will not impact her transformation
	Her transformation will no longer work because plasmids donât require telomeres
	She will now see much larger colonies
	She will now see fewer but larger colonies
	She will now see smaller colonies

In the Meselson/Stahl experiment, E. coli were first grown in media containing heavy nitrogen, 15N, and then transferred to light nitrogen, 14N, at the beginning of the experiment.

Imagine that their data showed that replication occurs in a conservative manner instead of semi-conservative. What fraction of the DNA helices will consist of mixed DNA after 4 rounds of replication in this case?

	None
	More than 75%
	25-50%
	51-75%
	Less than 25%

peachmarten804

BCH3031 Lecture Notes - Lecture 21: Single-Nucleotide Polymorphism, Human Genome Project, Intergenic Region

Get access

Related Documents

BCH3031 Lecture Notes - Lecture 22: The Cancer Genome Atlas, Drug Design, Receptor Tyrosine Kinase

BIOLOGY 1A03 Study Guide - Final Guide: Noncoding Dna, Tandem Repeat, Dna Profiling

Pharmacology 3620 Lecture Notes - Lecture 8: Point Mutation, Threonine, Neuromuscular-Blocking Drug

Related Questions