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Foundations #2 > Genetics > Flashcards

Genetics Flashcards

1
Q

the specific location of a gene on a chromosome

A

Locus

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2
Q

How many chromosomes

A

46 (23 pairs)

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3
Q

a change in some part of the DNA code

A

Mutation

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4
Q

any chromosome that is not a sex chromosome

A

autosome

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5
Q

another name for autosome

A

somatic cell

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6
Q

Meiosis

A

associated with sex cells

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7
Q

a measurable trait an organism has

A

phenotype

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8
Q

X linked is associated with what type of cells

A

sex

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9
Q

autosomal cells are associated with

A

somatic

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10
Q

example: AB blood type

A

co dominace

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11
Q

pink flowers are an example of

A

mixed dominance

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12
Q

the probability that individuals in a population who have a particular gene combination will show the condition

A

Penetrance

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13
Q

the components of the phenotype that are exhibited in an individual

A

expression

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14
Q

Genetic diseases that increase in severity or have earlier onset with each successive generation

A

Anticipation

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15
Q

Most common mutation is

A

aneuploidy – abnormal number

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16
Q

Research pedigree

Generations are given a

A

roman numerol

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17
Q

65% of human monogenic disorders

A

Autosomal dominant

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18
Q

Huntingtons is what type of degree

A

Autosomal dominant

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19
Q

Cystic fibrosis is an example of what type of genetic disease

A

autosomal recessive

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20
Q

5% of human monogenic disorders

A

X linked

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21
Q

25% of human monogenic disorders

A

autosomal recessive

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22
Q

Alport’s Syndrome, Fragile X Syndrome

A

X-linked dominant

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23
Q

Wiskott-Aldrich Syndrome, Duchenne muscular dystrophy

A

X-linked recessive

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24
Q

Caused by interactions of variations in multiple genes and environmental factors

A

Multifactorial/Complex Disease

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25
Q

Most common chromosomal abnormality in live births

A

Down Syndrome

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26
Q

can there be more than one cause of downs

A

yes

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27
Q

of adults with Down syndrome develop Alzheimer disease

A

1/2

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28
Q

40% have cardiac defects
75% hearing loss
>50% visual problems
7% have GI defects

A

downs

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29
Q

Edwards Syndrome

A

Trisomy 18

30
Q

Second most common autosomal trisomy after trisomy 21 that goes to full term

A

Trisomy 18

31
Q 
Kidney and heart defects
Developmental delay
Club foot (Rocker bottom feet)
Low set ears, small jaw
A

Trisomy 18

32
Q

Patau syndrome

A

Trisomy 13

33
Q

abnormal larynx development

A

Cri-du-Chat Syndrome

34
Q

Extra X chromosome, 47 XXY

A

Klinefelter’s Syndrome

35
Q

Accounts for many first trimester losses

A

Klinefelter’s Syndrome

36
Q

Most common sex chromosome aneuploidy in males

A

Klinefelter’s Syndrome

37
Q

XO

A

Turner Syndrome

38
Q 
Short stature
Broad chest
Webbed neck
Amenorrhea 
Infertility
Cardiovascular abnormalities
A

Turner Syndrome

39
Q

Time till death

A

Average time from symptom onset to death is 15 years

40
Q

Most common form of dementia in older individuals

Dementia

A

Alzheimer’s Disease

41
Q

Also called early onset AD

A

Familial Alzheimer’s Disease

Rare - <5% of cases of AD

42
Q

Chromosome 19 apolipoprotein E (APOE) gene

A

Sporadic Alzheimer’s Disease

43
Q

Up to (WHAT) of breast and ovarian cancers are caused by known predisposing genetic factors

A

10%

44
Q

on chromosome 17

A

BRCA1

45
Q

chromosome 13

A

BRCA2 (MORE DANGEROUS)

46
Q

mutation in APC

A

Familial adenomatous polyposis

47
Q

Once diagnosis of FAP is established, total colectomy is recommended before age

A

20

48
Q

Also called Lynch Syndrome

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

49
Q

Mutation in F9

A

hemophilia B (Christmas Disease)

50
Q

Mutation in F8 gene

A

hemophilia A

51
Q

Clinical manifestations: hemarthrosis (spontaneous bleeding into a joint), bleeding into muscles, and other soft tissues; prolonged bleeding or oozing of blood after injury or surgery

A

Hemophilia (x linked recessive)

52
Q

Distorts the red blood cell into a crescent shape
Abnormally shaped RBCs break down prematurely
Mutation on HBB gene

A

Sickle Cell Disease

53
Q

Genetic mutation: mutation in the CFTR gene

A

CF

54
Q

Cystic Fibrosis pattern of inheritance

A

autosomal recessive

55
Q

CF disrupts what channels

A

chloride

56
Q

Difficulty breathing, infections in lungs
Problems with nutrient digestion
Buildup of mucous prevents pancreatic enzymes from reaching intestine
Failure to thrive, poor growth rate

A

CF

57
Q

Carrier incidence: 1 in 25

A

Cystic Fibrosis

58
Q

Causes defects in connective tissue affecting multiple systems

A

Marfan Syndrome

59
Q

Results from either an inherited mutation or a new mutation of the fibrillin-1 gene (FBN1)

A

Marfan Syndrome

60
Q

Mode of inheritance: Marfan Syndrome

A

autosomal dominant

61
Q

Dislocated lens of the eye – vision problems

Aortic aneurysm/dissection

A

Marfan Syndrome

62
Q

Also called von Recklinghausen disease

A

Neurofibromatosis Type I

63
Q

Pattern of inheritance: Neurofibromatosis Type I

A

autosomal dominant

64
Q

Hyperpigmented skin lesions called café-au-lait spots

Flat patches on skin darker than surrounding area

A

Neurofibromatosis Type I

65
Q

Clusters of fluid filled sacs develop in kidneys
Affects ability to filter the blood properly
Kidneys become enlarged and can fail

A

Polycystic Kidney Disease

66
Q

Polycystic Kidney Disease- Autosomal dominant

A

more common type

67
Q

Approximately (WHAT) of all newborns have some birth defect

A

10%

68
Q

Biggest cause of birth defects

A

UNKNOWN

69
Q

anything capable of disrupting embryonic or fetal development and producing malformations

A

Teratogens

70
Q

Critical period for teratogenic effects is

A

3-13 weeks

71
Q

1st test: baby is

A

24-36 hours

72
Q

2nd test: 1st office visit

A

between 5-10 days

Foundations #2 (3 decks)

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