Lecture 4 Inheritance Genetics Flashcards

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1
Q

What was Gregor Mendel responsible for creating?

A

The Principles of Inheritance

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2
Q

What are the three Principles of Inheritance?

A

Uniformity
Segregation
Independent Assortment

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3
Q

Define Gene (2 points)

A

A part of a DNA molecule that serves as a template for making a functionally important RNA molecule

A determinant of a character that is inherited in accordance with Mendel’s rules

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4
Q

Define Locus

A

A unique chromosomal location defining the position of an individual gene or DNA sequence

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5
Q

Define Allele

A

Alternative versions of a gene

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6
Q

Define Genotype

A

A list of alleles present at one or a number of loci

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7
Q

Define Phenotype

A

Observable properties of an organism

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8
Q

Define Homozygous

A

Both alleles are the same at a given locus

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9
Q

Define Heterozygous

A

Alleles are different at a given locus

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10
Q

Can Recessive phenotypes be seen in a heterozygous person?

A

No

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11
Q

Can Dominant phenotypes be seen in a heterozygous person?

A

Yes

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12
Q

Name the 5 archetypal Mendelian Inheritance patterns

A

Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Y-linked

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13
Q

What kind of genetic inheritance affects Herterozygotes?

A

Autosomal dominant (one copy of the gene is enough to cause the disease)

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14
Q

Give an example of an autosomal dominant disease

A

Polycystic Kidney Disease

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15
Q

What mutation causes Polycystic Kidney Disease?

A

PKD1-3

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16
Q

What is PKD1-3 responsible for normally?

A

Required for vascular development (mostly in the kidneys but other tissues can be affected as well)

17
Q

What is the treatment for Polycystic Kidney Disease?

A

No treatment technically.
However dialysis is possible.
Otherwise the extreme is kidney transplant

18
Q

He talks about the genetics of PKD1 at a molecular level

A

Ngl I dont have the notes for this except for a diagram so ahahaha need to come back to this later. Slide 13 out of 53

19
Q
A