Block 1: Inheritance of disease : week 1 Flashcards

1
Q

what are the different chromosome structures in relation to the centromere?

A

Metacentric- The centromere is in the middle. The p and q arm are equal lengths
Submetacentric- The centromere is slighlty off
Acrocentric- the centromere is serverly off and the p arm is very short.

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2
Q

what type of staining do chromosomes undergo?

A

Giemsa staining
or
flouresent staining

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3
Q

what are the steps of meiosis and explain what happens at each step?

A

interphase
prophase 1- recombination
metaphase 1- chomosomes line on the equator, random assortment and crossing over occurs
anaphase 1- the chomosomes are pulled to either side
telophase1- two separate cells form
prophase 2- chromosomes condense and the nuclear envelope breaks down, if needed.
metaphase- chromosomes attach to spindle via their centrosomes
anaphase- chromtids are pulled to either side
telophase- new cellls formed

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4
Q

what type of cells undergo meiosis to produces gametes?

A

germ cells

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5
Q

difference between somatic and germline mutations.

A

Somatic mutations only effect that individual where as germline mutations effect the germ cells and can also be inherited.

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6
Q

whats a missense mutation?

A

A missense muation results in a change in a DNA base pair, can result in another AA.

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7
Q

whats a nonsense mutation?

A

Change in one DNA base which results in the formation of a stop codon.

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8
Q

what is a insertion or deletion mutation?

A

An insertion is the addition of a new base and a deltion is the removal of the base. This can result in a frameshift.

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9
Q

what is prevalance?

A

Prevalence is the proportion of a population who have a specific characteristic in a given time period.

                      # of people in sample with characteristic Prevalence  =  ━━━━━━━━━━━━━━━━━━━
                           Total # of people in sample
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10
Q

what is incidence?

A

Incidence is a measure of the number of new cases of a characteristic that develop in a population in a specified time period.

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