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genetic patho Flashcards

1
Q

genetics

A

study of individual genes

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2
Q

genomics

A

study of all genes in the human genome together, and their interactions with eachother, the environment, influence of psychosocial and cultural factors

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3
Q

epigenetic

A

in addition to changes in genetic sequences

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4
Q

when are chromosomes visible

A

when DNA divides

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5
Q

mitosis

A

cellular reproduction

prophase

metaphase: chromosomes are lined up and easiest to count the #

anaphase

telophase

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6
Q

meiosis

A

cellular reproduction in which gametes are produced

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7
Q

meiosis I vs meiosis II

A

I: is a reduction division reducing 46 chromosomes to 23

II: division is the same as a cellular division

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8
Q

euploid

A

refers to normal number of chromosomes

autosoma cells: carry diploid number of 46 chrom
*22 pairs are autosomal and 1 pair is X or Y sex

gamete contain only 23 (haploid)

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9
Q

DNA

A

sugar deoxyribose and phosphate backbone

ladder of 4 nitrogenous bases

2 purines (thymine & cytosine)
2 pyrimidines (Adenine & guanine)

A-T
G-C always together

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10
Q

gene

A

specific segment of dna that codes for a particular protein

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11
Q

locus

A

specific location on dna which a particular gene is located

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12
Q

Allele

A

different forms of the same gene

each person inherits 2 allels for each gene one from mom and one from dad

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13
Q

genotype vs phenotype

A

genotype: actual nucleotide sequence within dna

phenotype: morphology or outward ecpression of a specific genotype
* influenced by the environment

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14
Q

short arm vs long arm

A

short arm (p)

long arm (q)

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15
Q

karyotype

A

tells you info about chromosomes only
*# and structure

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16
Q

3 mechanisms of altered genetic processes

A

altered chromosomal NUMBER

altered chromosomal STRUCTURE (breaking off)

genetic mutation (altered dna sequence)

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17
Q

aneuploid

A

extra or deleted chromosomes
22 or 24 for gametes
45 or 47 for somatic

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18
Q

polyploid

A

extra sets
(not survivable outside the uterus)
Triploid = 69 chromosomes
Tetraploid = 92 chromosomes

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19
Q

trisomy

A

1 extra copy of chromosomes

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20
Q

monosomy

A

only one copy of chromosome (missing one)

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21
Q

main cause of aneuploidy

A

nondisjunction

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22
Q

nondisjunction

A

failure of seperation of chromosomes during cellular reproduction

either during a mitotic cell division or during either phase of meiosis

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23
Q

mosaic aneuploidy

A

the duplication or deletion of genetic material is not present in all the cells
(making it less severe)

this happens due to nondisjuntion after fertilization but before birth

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24
Q

autosomal aneuploidy can occur due to 2 things

A
  1. nondisjunction during meiosis
    *aneuploidy will be present in all cells
  2. mitotic nondisjunction during embryonic or fetal periods (after fetilization but before birth)
    *results in mosaic aneuploidy (not present in all cells)
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25
are autosomal monosomies survivable out of the uterus
no
26
trisomy 21 (autosomal aneuploidy)
down syndrome (most common with the best prognosis) risk of trisomy 21 increases with increasing maternal age
27
monosomy turner syndrome aneuploidy of sex chromosomes
femal with a missing X chromosome *only survivable monosomy
28
Klinefelter syndrome trisomy aneuploidy of sex chromosomes
male with extra X chromosome
29
when do aneuploidy of sex chromosomes typically occur?
meiosis (gamete production)
30
2.altered chromosome structure
during meiosis or mitosis cross over of genetic material it is normal for cross over between paired chromosomes but not two different chromosomes
31
chromosomal deletion
chromosomal segment breaks off and is lost
32
chromosomal duplication
one chromosome ends up with 2 copies of the same chromosomal segment
33
chromosomal inversion
part of the chromosome is turned “upside down” this alters the pattern of transcription of the DNA bc it reads from one end to the next and if its flipped it will read half backwards
34
chromosomal translocation
a chromosomal segment breaks off and attaches to a nonhomologous chromosome ex: segment of 21 breaks off and attaches to 1 in this case the person would have a partial extra 21 chromosome which can cause a form of down syndrome
35
Cri du Chat syndrome
deletion of short arm of chrom 5 microcephaly (small brain) cardiac defect
36
DiGeorge Syndrome
deletion of 11.2 region of long arm of chrom 22 cardiac defects congential absence or dysfunction of the thymus (effecting t cell maturing) immune dysfunction congenital hypoparathyroidism
37
3. genetic mutations
mutation: alteration of sequence of the nucleic acid bases in the dna mutation can be inherited thru the gametes or can be a new mutation
38
what can genetic mutations cause
pathophysiological changes if the mutation results in altered protein structure due to new dna sequence coding for it
39
silent mutation silent substitutions
mutation that occurs but the new code still codes for the same Amino Acid ex UUA mutates to UUG they both code for the same protein
40
GERMLINE MUTATIONS
mutation occurs during meiosis and is expressed as a new mutation in the child
41
embryonic mutation
mutation during mitotic cellular replication during the embryonic developmental period *not present in all cells - only the cells that descended from the mutated cell
42
somatic cell mutation
occurs during any mitotic cellular replication throughout life immune system recognize and destroy these but the ones that survive can increase cancer risks * this is why when the body is old and loses immune functions your more likely to get cancer bc these mutations arnt destroyed
43
PKU (phenylketonuria)
mutation causes clls to be unable to adequately produce a protein enzyme called (phenylalanine hydroxylase) without the enzyme to breath down phenylalanine into tyrosine we get an over accumulation *intracellular accumulation from ch 2
44
how is PKU environmental inflence on the phenotype?
you can fix it by restricting phenylalanine from the diet
45
Mendelian inheritance patterns
ONLY apply to inheritance of single gene mutations NOT chrom #, Chrom structure or mutations 4 predictable patterns: -autosomal dominant -autosomal recessive -sex-linked dominant -sex linked recessive
46
autosomal dominant (mutation)
alter proteins that are for body structure which can lead to altered function ex: neurofibromatosis type 1 (tumor supressor protein)
47
autosomal recessive (mutation)
alter proteins that affect function (enzymes, protein channels, specialized carrier models) leading to metabolic dysfunction ex: PKU, CF, sickle cell anemia
48
X-linked dominant (mutation)
very rare pattern
49
x-linked recessive
primarily affects males
50
Autosomal dominant disorder Marfan syndrome
connective tissue disorder altered production of fibrillin
51
autosomal dominant disorder Neurofibromatosis
type 1 NF: more common, high morbitdity, low mortality *cause benign tumors of peripheral nerves type 2 NF: less common, causes HEARING LOSS *causes benign tumors of “schwann cells” and affects the acoustic nerves type 3 NF: rare called Schwanomatosis *multiple schwanomas WITHOUT bilateral acoustic tumors
52
Autosomal recessive disorders Tay-Sachs Disease
a lysosomal storage disorder abnormal accumulation of gangliosides *causes decline in motor and mental function fatal in early childhood
53
autosomal recessive disorder Cystic fibrosis
mutation of gene that codes for a protein that functions as a chloride ion channel the defect of the chloride transport causes thick and dehyrated mucus in lungs, GI tract and sweat glands
54
what does this thick mucus do in CF?
obstruct lungs obstruct pancreas causing malabsorption of nutrition high sweat chloride levels
55
what is meconium?
stool passed by newborn during first bowel movement thick, sticky, black stubstance
56
how does CF cause meconium ileus?
in new borns they have meconium first stool with CF the thick mucus causes a INTESTINAL OBSTRUCTION any newborn who fails to have a bowel movement within 24 hours after birth should be evaluated for meconium ileus and CF
57
S/S of CF
in infancy may see: failure to thrive and delayed growth foul smelling stools skin taste salty
58
diagnosis of CF
US require screening for CF CF is fatal in early childhood due to resp and cardiac failure
59
x-linked dominant disorder hypophasphatemic rickets
defective protein in the kidney that helps with transport *this decreases blood phosphate—causing bones to release phosphate and calcium—causing FRAGILE BONES
60
x-linked recessive disorders Duchenne Muscular Dystrophy
alters the production of the protein “dystrophin” causes muscle wasting in affected males, with loss of ability to walk by age 10-12 death from resp/cardiac failure
61
x-linked recessive disorder color-blindness and hemophilia (type A & B)
more common in males
62
genetic imprinting
silences DNA can make it look like the mutation “skipped a generation” expression depends on whether the mutation is mom or dad side
63
example of genetic imprinting beind affected whether its the mom or dad mutation in chrm region 15 q11.2-q13
mom: angelman syndrom dad: prader-willi syndrome
64
mutation of mitochondrial DNA
inherited only from mom disorders associated with altered cellular energy production
65
polygenic traits
interaction of multiple genes involved in producing the disorder
66
multifactorial inheritance
environmental condition also contribute to pathophysiology -cleft lip and palate more than one factor affects it not just muations and genes
67
Teratogen
environmental agent that produces abnormalities in the fetus ex: fetal alcohol syndrome
68
fetal alcohol syndrome (FAS)
there is no fully same time to drink alcohol dunctional changes, ehavioal, cognitive issues microcephaly (small brain) structural dysmorphic changes

Bio300 exam 1 (8 decks)

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