Exam 2 part 5 Flashcards Preview

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Flashcards in Exam 2 part 5 Deck (31)
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1

Chromosome mutations

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

2

Euploid

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

3

aneuploid

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

4

Nondisjunction

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

5

Nullisomy

both homologous chromosomes are absent
embyronic lethal

6

Monosomy

one chromosome missing 2n-1

7

trisomy

one extra chromosome
2n+1

8

tetrasomy

2 extra chromosomes
2n+2

9

Trisomy 21 and advanced maternal age

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

10

Monoploidy

one set

11

Diploidy

2 sets

12

Polyploidy

at least 2 sets

13

Ploidy levels

monoploidy
diploidy
polyploidy

14

Monoploidy vs Haploidy

Monoploidy results from mitosis
Haploidly results from meiosis

15

autopolyploidy

extra set of chromosomes is identical to noromal haploid set

16

allopolyploidy

chromosome come from 2 different species to produce a hybrid

17

endopolyploidy

when only certain cells of an organism are polyploid

18

how chromosome structure changes occur

by breaks in chromosomes
general errors in recombination

19

Types of chromosomal structure changes

deletions
duplications
inversions
translocations

20

Deletion

Part of a chromosome gets looped and breaks, then lost

21

Consequences of deletion

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

22

Pseudodominance

deletion of a dominant allele and unmasking of recessive allele

23

acentric chromosome

deletion removes centromere
-nondisjuction

24

Duplication

Occurs during recombination
results in 2 normal chromosomes, one deletion chromosome, and one duplication chromosome

25

consequences of duplication

gene amplification

26

mutligene families

result from duplication.
multiple genes with related functions near each other on the same chromosome

27

paralogs

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

28

inversions

segment of chromosome reinserted backwards

29

consequences of inversion

inversion loops
position effect

30

position effect

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