Genetics Flashcards

1
Q

Genotype vs phenotype

A

Genotype = genetic make-up, the letters

Phenotype = physical expression, what we can see

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2
Q

Describe Segregation. What happens if there’s an error in segregation?

A

2 alleles of 1 particular trait will be separated & distributed to 2 different daughter cells

ex: Jj; allele J will go to 1 daughter cell & allele j will go in other

Errors= cancer, infertility, down syndrome

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3
Q

What happens during crossover?

A

aka chiasma

homologous chromosomes can break, & cross over resulting in recombinant chromosomes (mixture of combos from each parent)

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4
Q

Describe incomplete dominance. An example?

A

heterozygous indiviuals have intermediate phenotype

they might have sxs but not as intense

ex: sickle cell

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5
Q

Multiple-allele inheritance example?

A

Blood typing

genes that exhibit 1+ allele

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6
Q

Describe sex-linked inheritance

A

inherited traits determined by genes on sex chromosomes (XX or XY)

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7
Q

X chromosomes bear over _____ genes while Y chromosomes carry about ____

A

X = 1400+
Y = 200

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8
Q

Genes found only on X chromosome are called

A

X-linked genes

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9
Q

X-linked RECESSIVE alleles are ALWAYS expressed in _____

A

males; bc there is no Y counterpart

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10
Q

Females must have recessive alleles on_______ in order to express an X-linked condition

A

both X chromosomes

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11
Q

What conditions are passes from mothers to sons? (hemophilia, red-green color blindness)

A

X-linked recessive conditions

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12
Q

A female who is a carrier (heterozygous) for red-green color blindness + male w normal color vision are going to have a boy baby.

What is the % of the boy having colorblindness?

A

50%

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13
Q

A female who is a carrier (heterozygous) for red-green color blindness + male w normal color vision are going to have a boy baby.

What is the % of the offspring having colorblindness?

A

25%

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14
Q

A female who is a carrier (heterozygous) for red-green color blindness + male w normal color vision are going to have a boy baby.

What is the % of the female baby being a carrier of colorblindness?

A

50%

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15
Q

Name the 3 levels of control found in the human genome

A

1st layer: protein coding genes
2nd layer: small noncoding RNAs
3rd layer: epigenetic marks

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16
Q

The 1st layer of control involves ____ & is involved in what % of a cell’s DNA?

A

“protein coding genes”

DNA that is “blue print” for protein synthesis, that is actually synthesized

less than 2%

17
Q

The 2nd layer of control is found ____ & is involved in what % of a cell’s DNA?

A

“small noncoding RNAs”

non-protein-coding DNA

80% of genome

18
Q

The 3rd layer of control is stored in ____ that binds to ____ & affects what?

A

“epigenetic marks”

stored in proteins & chemical groups

binds to DNA

affects how chromatin are packaged

19
Q

All DNA is in the

20
Q

The most common small noncoding RNA is

A

microRNAs (miRNAs)

21
Q

Small noncoding RNA function

A

reduce expression of particular genes

joins w enzymes to silence genes

22
Q

What are transposons & what inactivates them? When is it important?

A

genes that tend to replicate themselves & insert themselves into distant DNA sites = disabling or hyper-activating genes

small non-coding RNAs inactivates

normally during development, fight off viral infections

23
Q

Mutations in sncRNAs have been implicated in

A

cancers & schizophrenia

24
Q

Certain chemical tags determine whether DNA is available for transcription (____) or silenced (______)

A

transcription = acetylation

Silenced = methylation

25
Describe genomic imprinting
certain genes tagged w methyl groups during gametogenesis to ID as maternal or paternal
26
There are ____ mitochondrial DNA & it is inherited from the ___ ONLY
37; mother ONLY
27
What are some rare d/o linked w errors in mtDNA?
Problems w oxidative phosphorylation (cellular respiration) Muscle/neurological problems (alzheimers, parkinson's)
28
Mnemonic for Autosomal Dominant D/Os
Very Powerful DOMINANT Humans only 1 gene/allele needed to be expressed *Von willebrand dz* *Psuedo-hypoparathyroidism* *Dystrophia myotonic* *Osteogenesis imperfecta* *Marfan syndrome* *Intermittent porphyria* *Neurofibromatosis* *Achondroplasia/Adult PCKD* Noonan syndrom Tuberous schlerosis *Hypercholesterolemia* *Huntington's* *Hypertrophic obstructive cardiomyopathy* Hereditary spherocytosis Hereditary non polyposis coli Hereditary hemorrhagic telangiectasi
29
Mnemonic for autosomal RECESSIVE d/o
ABCDEFGH *Albinism, Ataxia* Beta thalassemia *Cystic fibrosis* & congenital adrenal hyperplasia Distal spinal muscular atrophy Emphysema (alpha-1 antitrypsin def) Friedreich ataxia Galactosemia & glycogen storage d/o Hemochromatosis
30
X-LINKED recessive d/o
GRHBE G6PD Def Retinitis pigmentosa Hemophilia Blindness Ehler's Danlos
31
CFTR gene on chromosome 7 = what condition autosomal ____
cystic fibrosis autosomal recessive
32
DMD (dystrophin gene) = what condition
duchenne MD x-linked recessive
33
What 4 conditions have trisomal gene repeats?
Fragile X, huntington, friedreich ataxia, myotonic dystrophy
34
What conditions are trisomies?
Down syndrome (21) Edwards syndrome (18) Patau syndrome (13)
35
Short arm on chromosome 5 deletion
Cri-du-chat syndrome
36
What condition has XXY?
klinefeiter's syndrome
37
Deletion on chromosome 22 = what condition?
Digeorge syndrome
38
BRCA mutation
breast cancer
39
HFE
Hemochromatosis