Bld 204 Exam 3 Geneticsiii

Front 1

RNA Splicing Mutations

Back 1

exon -GTintronAG- exon

Front 2

Example of RNA splicing mutation

Back 2

beta - thalassemia

Front 3

Transcriptional Mutations block off

Back 3

DNA upstream of gene or 5' end

Front 4

Transcription Mutations can shut off ______
or make it _______

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transcription ; constitutive

Front 5

Mitochondrial DNA is _______,
with about ______ bp several copies

Back 5

circular ; 16,500

Front 6

Mitochondrial DNA contains genes for (3)

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-respiratory chain proteins (13),
-2 rRNA for making ribosomes
-22 tRNAs

Front 7

Amount of Mitochondria present in:
-Ova
-Sprem

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- abundant cytoplasm have many mitochondria
- few if any mitochondria

Front 8

Most mitochondrial DNA is transferred from
______ ______

Back 8

maternal line

Front 9

Why does mitochondrial DNA have a higher rate of mutation

Back 9

because it is constantly exposed to ROS from
the electron transport chain

Front 10

Mitochondrial Disorders affect (3)

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-skeletal muscles
-heart
-brain

Front 11

Example of Mitochondrial Disorder is (2)

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1. Leber's hereditary optic atrophy:
vision & heart rhythm
2. Myclonic Epilepsy with ragged red fibers:
epilepsy, RRF clumps, hearing, exercise intolerance

Front 12

Epigenetics is modulation of gene expression without

Back 12

actual alteration of DNA sequence

Front 13

2 examples of epigenetics

Back 13

-methylation of promoters
-histone modifications

Front 14

Non-coding RNAs (ncRNAs) have ______ _______

Back 14

regulatory functions

Front 15

miRNAs, siRNAs are ________ _________

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post-transcriptional silencing

Front 16

In Galactosemia:
Galactosemia is Autosomal _____

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Recessive

Front 17

In Galactosemia:
Galactosemia lacks _____ enzyme which helps...

Back 17

GALT enzyme which helps convert galactose to glucose

Front 18

In Galactosemia:
Metabolites from galactose accumulate in

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liver, eyes, kidneys, spleen and cerebral cortex

Front 19

In Galactosemia:
What are the first signs?

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Vomiting and diarrhea when given milk,
then jaundice

Front 20

In Galactosemia:
What will help severe complications

Back 20

removal of galactose from diet

Front 21

A Lysosomal Storage Disease is

Back 21

Tay-Sachs Disease

Front 22

Gangliosidosis:
-Accumulation of _____ in _______
-they are

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- gangliosides ; brain
-complex molecules made up of
glycosphingolipid and sialic acid

Front 23

Tay-Sach's Disease is most common in what kinds of people

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Ashkenazi Jewish & French Canadians

Front 24

Tay-Sach's Disease mainly affects _____ where
________ are metabolized

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neurons ; gangliosides

Front 25

Tay-Sach's Disease have unfolded protein
response involved in ______ _______

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stimulating apoptosis

Front 26

Tay-Sach's Disease symptoms at 3-6 months (4)

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1. progressive weakness
2. blindness
3. severe neurologic dysfunctions
4. death in 2-3 years

Front 27

Functional differences exist between paternal and maternal alleles of the same gene.
These differences arise from ______,
an ______ ______

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Imprinting ; epigenetic process

Front 28

Maternal imprinting =

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epigenetic silencing of maternal allele

Front 29

Imprinting (2) -

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-methylation of gene promoter and modification of histones
-occurs in ovum/sperm and transmitted to somatic cells derived from that zygote

Front 30

Prader-Willi vs. Angelman:
Prader-Willi (6)

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1. mental retardation
2. short stature
3. hypotonia
4. obesity
5. hypogonadism
6. deletion is paternal

Front 31

Prader-Willi vs. Angelman:
Angelman (5)

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1. mental retardation
2. ataxic gait
3. seizures
4. inappropriate laughter
5, maternal deletion

Front 32

2 roles of the Microbiota found in healthy
individuals is

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1. crowd out pathogens
2. extracting energy and nutrients from food