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32 Cards in this Set
- Front
- Back
RNA Splicing Mutations
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exon -GTintronAG- exon
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Example of RNA splicing mutation
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beta - thalassemia
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Transcriptional Mutations block off
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DNA upstream of gene or 5' end
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Transcription Mutations can shut off ______
or make it _______ |
transcription ; constitutive
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Mitochondrial DNA is _______,
with about ______ bp several copies |
circular ; 16,500
|
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Mitochondrial DNA contains genes for (3)
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-respiratory chain proteins (13),
-2 rRNA for making ribosomes -22 tRNAs |
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Amount of Mitochondria present in:
-Ova -Sprem |
- abundant cytoplasm have many mitochondria
- few if any mitochondria |
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Most mitochondrial DNA is transferred from
______ ______ |
maternal line
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Why does mitochondrial DNA have a higher rate of mutation
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because it is constantly exposed to ROS from
the electron transport chain |
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Mitochondrial Disorders affect (3)
|
-skeletal muscles
-heart -brain |
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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 |
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Epigenetics is modulation of gene expression without
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actual alteration of DNA sequence
|
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2 examples of epigenetics
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-methylation of promoters
-histone modifications |
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Non-coding RNAs (ncRNAs) have ______ _______
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regulatory functions
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miRNAs, siRNAs are ________ _________
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post-transcriptional silencing
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In Galactosemia: Galactosemia is Autosomal _____ |
Recessive
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In Galactosemia:
Galactosemia lacks _____ enzyme which helps... |
GALT enzyme which helps convert galactose to glucose
|
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In Galactosemia:
Metabolites from galactose accumulate in |
liver, eyes, kidneys, spleen and cerebral cortex
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In Galactosemia:
What are the first signs? |
Vomiting and diarrhea when given milk,
then jaundice |
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In Galactosemia:
What will help severe complications |
removal of galactose from diet
|
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A Lysosomal Storage Disease is
|
Tay-Sachs Disease
|
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Gangliosidosis:
-Accumulation of _____ in _______ -they are |
- gangliosides ; brain
-complex molecules made up of glycosphingolipid and sialic acid |
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Tay-Sach's Disease is most common in what kinds of people
|
Ashkenazi Jewish & French Canadians
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Tay-Sach's Disease mainly affects _____ where
________ are metabolized |
neurons ; gangliosides
|
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Tay-Sach's Disease have unfolded protein
response involved in ______ _______ |
stimulating apoptosis
|
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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 |
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Functional differences exist between paternal and maternal alleles of the same gene.
These differences arise from ______, an ______ ______ |
Imprinting ; epigenetic process
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Maternal imprinting =
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epigenetic silencing of maternal allele
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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 |
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Prader-Willi vs. Angelman:
Prader-Willi (6) |
1. mental retardation
2. short stature 3. hypotonia 4. obesity 5. hypogonadism 6. deletion is paternal |
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Prader-Willi vs. Angelman:
Angelman (5) |
1. mental retardation
2. ataxic gait 3. seizures 4. inappropriate laughter 5, maternal deletion |
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2 roles of the Microbiota found in healthy
individuals is |
1. crowd out pathogens
2. extracting energy and nutrients from food |