Quickie Review Flashcards

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1
Q

What are the three types of Chromosome shapes?

A

Meta-centric, Submetacentric, acrocentric

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2
Q

Which stage in the cell life cycle? interval b/w mitosis and replication: Preparing to replicate

A

G1

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3
Q

When is G2 in the cell life cycle?

A

in-between S and mitosis

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4
Q

Which stage of mitosis? Chromosomes condense

Mitotic spindle/centrosomes begin to form

A

Prophase

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5
Q

Which stage of mitosis? Nuclear membrane disappears

A

Pro-metaphase

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6
Q

Which stage of mitosis? Chromosomes fully condensed, Chromosomes line up on metaphase plate, Spindle fibers begin to contract

A

Metaphase

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7
Q

Which stage of mitosis? Centromeres divide into two

Spindle fibers pull chromatids toward opposite sides of the cell (centromere first)

A

Anaphase

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8
Q

Which stage of mitosis? Cytokinesis (forms two identical daughter cells), Two nuclear membranes form,Spindle fibers disappear, Chromosomes decondense and return to interphase

A

Telophase

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9
Q

In female gamatogenesis, one egg and ____ polar bodies after fertilization.

A

2 polar bodies

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10
Q

In female gamatogenesis, one egg and ____ polar bodies W/O fertilization.

A

1 polar body

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11
Q

What is the average size of a gene?

A

14,000 bp

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12
Q

How many base pairs is 1cM?

A

1 million bp

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13
Q

How many codons in the genetic code?

A

64

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14
Q

How many Amino Acids have only 1 codon? What are they??

A

2!…….Tryptophan-UGG….Methionine (AUG)

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15
Q

What are the stop codons?

A

UAA, UAG, UGA

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16
Q

What is the main point of NeuroFibroMatosis type I?

A

It has high variability!

17
Q

How can a female have an x-linked recessive disorder? What is the #1 reason?

A

Father has to have a recessive X and mom either affected or a carrier…..#1=SKEWED X INACTIVATION

18
Q

What two genetic concepts are associated with Prader-Willi and Angelamn syndromes?

A

Non-Mandilian Inheritance and Imprinting

19
Q

What is the most common mechanism that causes PWS? What about AS?

A

PWS: 70% have deletions in the PATERNAL 15th chromosome…AS: 68% have deletions in the MATERNAL 15th chromosome

20
Q

What is the most efficient way for testing PWS and AS?

A

Methylation Analysis

21
Q

What is Uniparental disomy? Which types of disorders does it imply?

A

Inheritance of 2 copies of a gene or chromosome from 1 parent…CF, PWS, and AS

22
Q

What are the 4 components to a PCR reaction?

A

1.DNA Template 2.DNA Polymerase 3.Primers 4.Nucleotides

23
Q

What makes up one cycle of PCR?

A

Denature, Anneal, Extend