Exam 2 part 5 Flashcards

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1
Q

Chromosome mutations

A

change from normal chromosome structure and/or number
change in gene expression pattern, if organism is viable
detectable through karyotyping
occurs commonly

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2
Q

Euploid

A

number of chromosomes in individual’s cells is a multiple of normal haploid set

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3
Q

aneuploid

A

not a multiple of normal haploid set; one or more extra/missing chromosomes

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4
Q

Nondisjunction

A

homologous chromosomes during anaphase I or sister chromatids during anaphase II do no segregate properly

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5
Q

Nullisomy

A

both homologous chromosomes are absent

embyronic lethal

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6
Q

Monosomy

A

one chromosome missing 2n-1

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7
Q

trisomy

A

one extra chromosome

2n+1

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8
Q

tetrasomy

A

2 extra chromosomes

2n+2

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9
Q

Trisomy 21 and advanced maternal age

A

oocytes are arrested in prophase I each moth after puberty, meiosis continues in 1 egg

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10
Q

Monoploidy

A

one set

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11
Q

Diploidy

A

2 sets

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12
Q

Polyploidy

A

at least 2 sets

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13
Q

Ploidy levels

A

monoploidy
diploidy
polyploidy

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14
Q

Monoploidy vs Haploidy

A

Monoploidy results from mitosis

Haploidly results from meiosis

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15
Q

autopolyploidy

A

extra set of chromosomes is identical to noromal haploid set

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16
Q

allopolyploidy

A

chromosome come from 2 different species to produce a hybrid

17
Q

endopolyploidy

A

when only certain cells of an organism are polyploid

18
Q

how chromosome structure changes occur

A

by breaks in chromosomes

general errors in recombination

19
Q

Types of chromosomal structure changes

A

deletions
duplications
inversions
translocations

20
Q

Deletion

A

Part of a chromosome gets looped and breaks, then lost

21
Q

Consequences of deletion

A

-if deletion of recessive allele, normal phenotype
-pseudodominance
Haploinsufficiency
Acentric chromosome

22
Q

Pseudodominance

A

deletion of a dominant allele and unmasking of recessive allele

23
Q

acentric chromosome

A

deletion removes centromere

-nondisjuction

24
Q

Duplication

A

Occurs during recombination

results in 2 normal chromosomes, one deletion chromosome, and one duplication chromosome

25
Q

consequences of duplication

A

gene amplification

26
Q

mutligene families

A

result from duplication.

multiple genes with related functions near each other on the same chromosome

27
Q

paralogs

A

type of homolog, 2 or more genes in an organism that have similar or identical functions

28
Q

inversions

A

segment of chromosome reinserted backwards

29
Q

consequences of inversion

A

inversion loops

position effect

30
Q

position effect

A

location of gene can effect is transcription (how close to heterochromatin)
over or under gene expression

31
Q

translocation

A

nonreciprocal or reciporcal translocation