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Flashcards in Unit 3 Deck (20)
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1
Q

What is bioinformatics?

A

Information technology applied to the management and analysis of biological data

2
Q

What was the Earth bio genome project and what was it used for?

A

The sequencing of 1.5 million genes
used for:
new drugs, new food sources, saving species from extinction, understanding a species’ origin

3
Q

What is comparative genomics?

A

alignment with a sequence of known function based on evolutionary theory

4
Q

What is Comparative Genomics used for?

A

Association studies to find disease genes
RNA studies to investigate gene expression
Looking for single nucleotide polymorphisms

5
Q

What is the Principle of Segregation?

A

for any particular trait, during gamete formation the two alleles in each parent seperate and only one allele is passed to the offspring.
e.g. pea colour

6
Q

What is the principle of Independent Assortment?

A

when two or more genes are at the same loci, alleles for each gene are passed to the offspring independently of each other.
e.g. pear colour and shape

7
Q

What is a wildtype allele?

A

an unaltered gene

8
Q

What are the three types of group alleles in a population?

A

Loss of function alleles
Gain of function alleles
Isoalleles

9
Q

What is an Isoallele?

A

does not alter quantity or distribution- same action as wildtype allele.

10
Q

Which group allele causes reduced activity and is recessive to wildtype alleles?

A

Loss of function allele

11
Q

Which modes of inheritance have the gene on the autosome? What does this mean?

A

Autosomal dominant
Autosomal Recessive
Sex-limited inheritance

Usually means it affects males and females equally- exception of Sex-limited inheritance.

12
Q

What is the difference between Autosomal Dominant and Autosomal Recessive?

A

Dominant- one copy of mutated allele needed for disease, affected offspring have one affected parent, doesn’t skip generations
Recessive- two copies of mutated allele required for disease, can skip generations, 3/4 of offspring with two affected parents are carriers/ affected.

13
Q

Which mode of inheritance is the gene on the X-chromosome? What does this mean?

A

X-linked recessive- usually males are affected and females are carriers.

14
Q

_____________ usually appears in sex specific tissues/ organs

A

Sex- limited inheritance

15
Q

What are Polygenic traits?

Give an example

A

expression is affected by genotype and the environment e.g. Hip Dysplasia

16
Q

What are the two types of Mutations? Briefly describe them.

A

Point mutations- altered nucleotide sequence of a gene during replication e.g. substitutions, insertions
Chromosome mutations- alterations of a chromosome number

17
Q

What is Chromosome non-disjunction?

A

where chromosomes don’t seperate during cell division- so one daughter cell has an extra chromosome and the other is missing one.

18
Q

when a base change alters a codon but the new codon codes for the same amino acid this is known as a ___________

A

silent mutation

19
Q

What is a splice site?

A

when a base change at splice acceptor disrupts mRNA processing leading to incorporation of an intron.

20
Q

If a base is inserted/ deleted and not in a multiple of three, this leads to ……

A

a frameshift mutation, changing the reading frame completely and leading to premature termination