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NUR 280 > Genetic Basis of Disease > Flashcards

Genetic Basis of Disease Flashcards

1
Q

what is a gene

A

basic unit of heredity

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2
Q

what are epigenetic changes

A

alterations of gene expression

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3
Q

what are pharmacogenomics

A

interactions btwn genetics and meds

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4
Q

what are genetics

A

study of inherited traits or study of genes

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5
Q

what are genomics

A

study of all genetic material

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6
Q

what is DNA

A

double stranded helical structure of nucleotides

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7
Q

what is central dogma

A

how it works

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8
Q

what are exons

A

portions of genome that encodes proteins

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9
Q

what are introns

A

portions of genome that do not encode for proteins

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10
Q

what are codons

A

set of 3 nucleotides that signal a specific amino acid

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11
Q

what are genetic mutations

A

damage or change to a gene that alters genetic code
may be inherited or occur sporadically

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12
Q

what is a germ cell mutation

A

gametes affected: may be passed to offspring

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13
Q

what is a somatic cell mutation

A

body cells
not passed to offspring

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14
Q

what is gene nomenclature

A

specific name: BRCA1

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15
Q

what is gene locus

A

chromosome #, arm, and region

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16
Q

what happens in transcription

A

DNA to mRNA
RNA polymerase uses DNA as template to form mRNA strand
spliceosomes- excise introns
mRNA leaves nucleus

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17
Q

what happens in translation

A

mRNA to protein
ribosome- mRNA transcript “read”
tRNA- one end binds to 3-nucleotide sequence on mRNA…. other end contains corresponding amino acid for the nucelotide sequence
amino acids linked by peptide bonds

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18
Q

what is allele inheritance

A

a gene that is inherited from 1 parent

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19
Q

what does heterozygous mean

A

alleles carry different traits

20
Q

what does homozygous mean

A

alleles have idenitical triats

21
Q

what does dominant trait mean

A

1 allele needed for expression indicated by capital letter

22
Q

what does recessive trait mean

A

both identical alleles needed
indicated by lower case letter

23
Q

what is a carrier

A

heterozygous for recessive trait

24
Q

what is a genotype

A

a genetic code

25
Q

what is a phenotype

A

physical expression of genes

26
Q

what is mendelian inheritance

A

1 copy of a gene inherited from both parents

27
Q

what are autosomal triats

A

1 copy of dominant allele or 2 copies of a recessive allele to express a quality

28
Q

what is sex linked inheritance

A

x-linked inheritance

29
Q

what is genetic penetrance and expressivity

A

ratio of ppl w/ a phenotype combined to the genotype

30
Q

what are some charatcerisitcs of mitochondrial DNA

A

inherited from mother
can be damaged by free radicals
damage implicated in disease like diabetes, cancer and heart failure
disorders can be inherited: neurodegenerative disorders, hypertrophic cardiomyopathy

31
Q

what is aneuploidy

A

different # of chromosomes than 46

32
Q

what is translocation

A

1 piece of a chromosome breaking off and joining another

33
Q

what is deletion

A

piece of chromosome is broken and lost

34
Q

what are some examples of genetic assessment

A

pedigree (genogram)
karyotyping
polymerase chain reaction
FISH
southern blotting

35
Q

what are some characterisitics of prenatal screening

A

women 35 yrs or older
abnormal ultrasound findings
close blood relative couple
condition w/ risk of fetal problems
unexplained or multiple miscarriages
family hx
early detection of birth defects

36
Q

what are examples of prenatal genetic disorder screening

A

materal serum screening
chorionic villus sampling
amniocentesis
percutaneous umbilical cord blood screening

37
Q

what can prenatal genetic screening identify

A

neural tube defects
down syndrome
chromosome abnormalities
spina bifida
cleft palate
cystic fibrosis

38
Q

what are some characteristics of familial hypercholesterolemia

A

autosomal dominant- short arm of chromosome 19
lack of LDL receptors (elevated LDL in blood)
homozygous (more severe) and heterozygous forms
widespread atherosclerosis may develop

39
Q

what are some characterisitcs of marfan’s syndrome

A

autosomal dominant- can result from sporatic mutation
fibrillin-1 gene mutation on chromosome 15
damage to fibrillin
heart diease- mainly aortic dilation and dissection- avg death 30-40

40
Q

what are some characteristics of cystic fibrosis

A

autosomal recessive
defect in cystic fibrosis transmembrane conductance regulator gene
disrupts lung function (excess mucous) and pancreatic secreation (malabsorption of nutrients)
treatments- pancreatic enzyme supplements, bronchodilators, mucolytics, and nutritional supplements

41
Q

what is tay-sachs disease

A

lysosomal storage disease
abnormal hexosaminiase A enzye (chomosome 15) leading to ganglioside accumulation in CNS

42
Q

what is neimann-pick disease

A

lysosomal storage disease
deficiency in sphingomyelinase
lipids accumulate in brain, spleen, liver, and lymph nodes

43
Q

what is gaucher disease

A

most common lysosomal storage disease
accumulation of glucocerebrosides in macrophages and CNS
150 gene mutations can result in this condition

44
Q

what is klinefelter syndrome

A

XXY karyotype
lack of development of testes, gynecomastia, skeletal and heart abnomalities
decreased cognitive development
testosterone replacement needed

45
Q

what is turner syndrome

A

X0 karyotype
may result in spontaneous abortion
short stature and infertility
lack of breast development and amenorrhea at puberty
estrogen therapy and hormone replacement

46
Q

what is down syndrome

A

trisomy 21
most common chromosomal disordere
flat facial profile, epicanthic folds around eyes
80% have IQ of 25-50

NUR 280 (7 decks)

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