Genetic Mutations Flashcards

1
Q

What are the types of chromosomal mutations

A

Deletion, insertion, duplication, inversion, and translocation

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2
Q

explain duplication

A

attachment of a chromosome fragment to a homologue that has already completed itself after crossing over

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3
Q

explain deletion

A

chromosome that lacks genetic information due to failure of a chromosome fragment attaching to its homologous chromosome during crossing over

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4
Q

explain inversion

A

reverse order of attachment to a chromosome fragment; a piece of the chromosome is inverted

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5
Q

explain translocation

A

attachment of a chromosome fragment to a non-homologous chromosome during crossing over

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6
Q

explain insertion

A

addition of parts of one chromosome that are added to another chromosome

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7
Q

what are mutations

A

changes made to a sequence of DNA in a gene

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8
Q

what causes mutations to occur

A

spontaneous mutations which occur randomly from errors during the S phase of DNA replication and cell division

induced mutations result from physical/chemical damage to DNA from outside factors

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9
Q

what are chromosomal mutations

A

an error that involves whole chromosomes or a large part of a chromosome

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10
Q

when does non disjunction occur?

A

either in anaphase 1 with homologous chromosomes, or anaphase 2 with sister chromatids

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11
Q

when do changes in chromosome structure occur and what does this cause

A

these changes occur in prophase 1 when they homologous chromosomes cross over. the changes in chromosome structure are a result of improper reformation of DNA or due to non-homologous chromosomes crossing over when they shouldn’t

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12
Q

what is cri-du chat

A

A deletion in chromosome 5 (too little genes)

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13
Q

what is charcot-marie-tooth disease

A

duplication of a gene on chromosome 17

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14
Q

what is FG syndrome

A

inversion of section of X chromosome

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15
Q

what is Klinefelter sydrome

A

trisomy of sex chromosomes (two X and one Y)

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16
Q

what is turner syndrome

A

monosomy involving one X chromosome (total of 45 chromosomes)

17
Q

what is down syndrome

A

trisomy of 21 chromosomes