genetics Flashcards

1
Q

transcription

A

from DNA to mRNA

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2
Q

translation

A

from mRNA to amino acid chain

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3
Q

mutation

A

any inherited alteration of genetic material

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4
Q

polymorphism

A

always good!

100% physiologic/can’t cause disease

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5
Q

The function of DNA polymerase is to

A

perform base-pairing in replication

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6
Q

An accurate description of a silent mutation is

A

a change in the DNA without a change in amino acid

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7
Q

What chemical complex is secreted into the cytoplasm and synthesized in the nucleolus?

A

ribosomes

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8
Q

Which of the following terms describes a cell that does not contain a multiple of 23 chromosomes?

A

aneuploid

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9
Q

A female patient born with short stature, webbing of the neck, sparse body hair, and narrowing of the aorta is likely exhibiting symptomology of:

A

Turner syndrome

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10
Q

A patient born with the deletion of the short arm of the chromosome 5 is exhibiting a characteristic of:

A

cri-du-chat syndrome

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11
Q

It is true that autosomal dominant gene transmission results in:

A

he affected parent transmitting the gene to half of his or her children.

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12
Q

Which of the following is a TRUE statement regarding autosomal recessive trait inheritance? It is true that autosomal recessive trait inheritance results in:

A

both males and females being affected equally.

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13
Q

Regarding sex-linked inheritance, it is true that:

A

X-linked recessive diseases are more common than X-linked dominant diseases

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14
Q

if homologous chromosomes fail to separate during meiosis, the disorder is

A

nondisjunction

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15
Q

recessive disorder

A

individual is homozygous for a gene

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16
Q

phenotype

A

outward appearance of an individual

17
Q
  • -Define point mutation

- -pathology?

A

1 base pair replaces another

LEAST PATHOLOGIC!

18
Q

frameshift mutation

pathology?

A

insertion or deletion of base paris (as long as it’s not a multiple of 3) causing a shift in the “frame reading” thus causing a huge alteration in amino acid sequence
MOST PATHOLOGIC!

19
Q

polyploid

A

more than 46 chromosomes but still good

found in liver, bronchial cells

20
Q

trisomy 13 -Patau syndrome

A

least common, most pathologic

rarely born alive

21
Q

trisomy 21- Downs syndrome

A

most common, least pathologic

risk increase with mothers age

22
Q

Autosome

A

chromosomes #1-22 NOT the sex chromosomes

23
Q

atrophy

A

cell shrink

24
Q

hypertrophy

A

increase in cell size

25
Q

hyperplasia

A

increase in # of cells

26
Q

metaplasia

A

change in tissue—-reversible!

27
Q

dysplasia

A

pathologic change in tissue- chronic and irreversible

28
Q

hypoxia

A

decrease in O2 in tissues cause by ischemia

29
Q

ischemia leads to ____ which leads to ____

A

hypoxia

necrosis

30
Q

to get cancer, name the genes that need to be mutated

A

Tumor supressor gene–OFF

oncogene–ON

31
Q

what mutation needs to happen to turn tumor suppressor gene off

A

2 mutations, homozygous

32
Q

what mutation is required to turn oncogene on?

A

1 heterozygous mutation

33
Q

A decrease in workload, use, pressure, or blood supply appropriately describes:

A

pathologic atrophy

34
Q

The appropriate term for the reversible replacement of one mature cell by another is

A

metaplasia