Chromosomal Interitance II Flashcards

1
Q

what are the 2 types of large scale chromosomal alterations on ptype

A

abnormal chromosome number

alterations of chromosome structure

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2
Q

describe abnormal chromosome number

A

caused by nondisjunction in meiosis I or II

one gamete receives 2 of same chromosome, other receives nothing

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3
Q

what gametes are produced by nondisjunction in meiosis I

A

n+1, n+1, n-1, n-1

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4
Q

what gametes are produced by nondisjunction in meiosis II

A

n, n, n+1, n-1

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5
Q

define aneuploidy

A

fert of gametes that have nondisjunctin

results in trisomies(2n+1) and monosomies(2n-1)

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6
Q

T/F: most alterations of chromosome number are viable

A

F

trisomies and monosomies are leading cause of pregnancy loss; viable ones have sever health probs

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7
Q

why do some indiv live to survive at birth and beyond?

A

some aneuploidies upset genetic balance to a lesser degree but have syndrome

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8
Q

Down syndrome/Trisomy 21

A

extra chromosome 21
1/830
inc risk w inc mother age

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9
Q

Patau syndrome (trisomy 13)

A

extra chromosome 13
1/5000
eye probs, circulation probs, cleft palate
rarely live more than few months

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10
Q

Edward’s Syndrome(Trisomy 18)

A

1/10000
almost every organ system affected
children do not live more than a few months

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11
Q

Trisomy X (XXX)

A

1/1000
healthy fertile female
slightly taller than avg

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12
Q

Klinefelter (XXY)

A

1/500-1000
small testes and sterile
breast enlargement

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13
Q

Monosomy X (XO)

A

1/2500
only known viable monosomy in humans
sterile female
no female organ maturation

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14
Q

XYY

A

1/1000
healthy fertile
taller than avg

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15
Q

accessory chromosomes

A

not necessary for survival
present in some insects, fungi

core chromosomes are essential for cell metab; evolve slowly
accessory chromosomes evolve fast and high mutation rates

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16
Q

Polyploidy

A

complete nondisjunction
organism has > 2 sets of each chromosome

causes smaller upset in genetic balance than missing 1 chromosome or having 1 extra chromosome
common in plants

inc metabolism of certain tissues (megakaryocytes that produce platelets, hepatocytes and TGCs provide nutrients and metabolites)

17
Q

Chromosome structure alterations

A

deletion- chromosomal segment removed
duplication- segment is repeated
inversion- reverses segment w/in chromosome
translocation- segment is moved from 1 chromosome to another

18
Q

disorders from structurally altered chromosome

A

cri du chat

myelogenous leukemia

19
Q

cri du chat

A

deletion from chromosome 5
small head, retarded, cries like cat
die in infancy or early childhood

20
Q

myelogenous keukemia

A

translocation of a larger section of chrom 22 to 9 and a small section of 9 to 22(reciprocal)
chrom 22 called philadelphia chrom
causes cancer by activating gene involved in cell cycle

21
Q

chromosomal structure and evol

A

chrom structure changes over time

chrom 2 between humans (fused) and chimps/gorillas/orangs

22
Q

inheritance patterns that are exceptions to mendelian inheritance

A

1) genomic imprinting

2) extranuclear genes

23
Q

Genomic imprinting

A

certain genes 🧬 have preference over whether the maternal or paternal allele is expressed
ex. in mice, a mouse inheriting a dwarf allele from mom and normal from dad will be normal but a mouse inheriting a dwarf from dad and normal from mom will be dwarf
most imprinted genes are important in embryonic dev
genes imprinted in germ line are not expressed early in dev

24
Q

extranuclear DNA

A

mito, chloro, plastids inherit maternal material

zygote cytoplasm was the egg’s

25
Q

first evidence of extranuclear DNA?

A

yellow and white patches on leaves of a green plant

ptype of offspring matched only to materal ptype