Class 1 Flashcards

1
Q

Predisposing factors

A

increase the probability that a disease will occur. Not the cause of disease

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2
Q

Precipitating factors

A

condition or event that does cause a pathogenic event or disorder

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3
Q

aneuploidy

A

when a cell does not contain a mutilple of 23 chromosomes

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4
Q

mutation

A

any inherited alteration of genetic material

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5
Q

frameshift mutation

A

insertion or deletion of one or more base pairs. Can greatly alter the amino acid sequence!!!!

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6
Q

Base pair substitution

A

one base pair is replaced by another. Not as severe as frameshift.

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7
Q

Nondisjunction

A

error where 2 homologus chromosomes fail to seperate. Produces some gametes that have 2 copies of chromosome (results in trisomy) or no copies (monosomy)

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8
Q

Nondisjunction creates an?

A

aneuploidy

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9
Q

Down syndrome

A

trisomy of chromosome 21

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10
Q

Turner syndrome

A

presence of a single X chromosome

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11
Q

Turner syndrome is only present in?

A

females

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12
Q

short stature, widely spaced nipples, webbed fingers and toes

A

turners syndrome

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13
Q

Autosomal Recessive disorders mean that?

A

both parents must carry the gene

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14
Q

Autosomal dominant inheritence requires?

A

only one parent to carry the gene

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15
Q

multifactorial disorders

A

diseases caused by a number of genes acting together and influenced by other factors

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16
Q

Obstruction

A

blockage of tube or lack of function

17
Q

Mechanical obstruction

A

something physical or structural that blocks the tube

18
Q

Functional obstruction

A

tube is not in function. Less common and harder to understand. An example is the paralysis of the gut.

19
Q

What type of mutation is the most serious?

A

frameshift mutation

20
Q

Klinefelter syndrome

A

47 chromosomes (XXY)

21
Q

what is an example of an autosomal recessive disorder?

A

cystic fibrosis

22
Q

What is an example of a autosomal dominant disorder?

A

huntingtons disease

23
Q

X linked gene disorders

A

males inherit these types of diseases from their mother. Females become carriers

24
Q

Example of X linked disorders

A

duchenne muscular dystrophy and hemophilia