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Anatomy Mid term > genetics > Flashcards

genetics Flashcards

1
Q

autosomal dominant is when _____ parent is infected

A

one parent is infected

no skipping and 50 % chance children will inherit

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2
Q

what is autosomal dominant disease

A

huntingtons

marfans

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3
Q

Autosomal recessive is when

A

2 parents are infected or 2 parents carry the illness
50 % chance off spring will cary
25% chance of infection
25% chance carriers

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4
Q

autosomal recessiv diseases

A

sickle cell
CF
hemophilia
albanism

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5
Q

x linked dominant disease

A

heterozygous - 50% chance mothers have it

affected fathers will 100% affect daughters

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6
Q

x linked dominant illness

A

alport
retts
fragile x

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7
Q

x linked recessive

A

mothers infected will affect 100%

no male to male transmission

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8
Q

x linked recessive diseases are

A

MD
C6PD
Hunter

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9
Q

homozygous means

A

the same

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10
Q

heterozygous means

A

different

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11
Q

phenotype

A

observable traits of on organism can be influenced by environmental , nutrition, temps, stress

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12
Q

genotype

A

something we inherit from genes - eye colors, hair color

specific gene given to us

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13
Q

Down syndrome is an disease due to

A

Trisomy 21 (aneulopody)
XXX
extra chromosome

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14
Q

what are the s/s of downs syndrome

A 
single crease in palm of hand known as Simeon crease
slanted eyes
heart defects
leukemia
alzheimers
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15
Q

what is the testing for down syndrome

A

amniocentesis

karotype

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16
Q

_____ percent of downs syndrome is non-disjunctions

A

95%

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17
Q

Klinefleter syndrome is a chromosomal disorder of

A

xxY - males with extra chromosome

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18
Q

what are the characteristics of klinefleter syndrome

A

male and female characteristics
gynecomastia
infertility
small testicular size

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19
Q

testing for klineflter syndrome is

A

chromosomal

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20
Q

what is the treatment for kleinfelter

A

testosterone replacement

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21
Q

Turner syndrome is a

A

45X chromosomal disease
only in females
can be determined in infancy

22
Q

what are the s/s of Turner syndrome

A 
webbed neck
no breasts
widely shaped nipples
look like kids
infertility
23
Q

treatment for turners

A

hormonal therapy

estrogen

24
Q

Huntingtons disease is an autosomal _______ disease

A

dominant

25
Q

Huntington disease is on chromosome #

A

4

26
Q

huntingtons is a progressive _____

A

degeneration of nerve cells

loss of GABA within basal ganglia

27
Q

Huntingtons. onset is around ages

A

30-50

28
Q

what are the s/s of huntingtons

A

chorea - irregular , spasmodic involuntary movements, twisting and writhing
dementia
mood problems
speech and balance problems

29
Q

Dwarfism are autosomal ______

A

dominant

30
Q

Dwarfism is when they are less than ____ feet

A

4 ft 10 inches

31
Q

achondroplasia means

A

w/o cartilage

32
Q

primordial dwarfism is autosomal ________

A

recessive

33
Q

s/s of dwarfism is

A

club foot deformities
problems with hips
scoliosis

34
Q

Sickle cell anemia

A

autosomal recessive

35
Q

One single gene changes glutamine to valine changes it from

A

HBA to HBS

36
Q

with sickle cell anemia you have

A

HBS

37
Q

what is one treatment for sickle cell

A

HBF

38
Q

what are the s/s of sickle cell anemia

A 
pale
jaundice
impaired growth
fatigue
anemic
39
Q

sickling of cells causes

A

abdominal pain, bone pain

40
Q

hemolytic crisis

A

jaundice and hematuria

41
Q

sickle cell blood lives only

A

10- 20 days

42
Q

normal blood cells live

A

120 days

43
Q

with sickle cell anemia you can get what with spleen

A

splenomegaly

44
Q

treatment for sickle cell anemia

A

HBF

antibiotics

45
Q

Pradi - willi is deletion of

A

4 million bases of long arm of chromosome 15

46
Q

Pradi - willi is inhereted from

A

father

47
Q

s/s of pridi willi

A

obesity

short

48
Q

angel man is due to deletion of

A

4 mb pairs of chromosome 15

49
Q

angel man is inherited from

A

mother

50
Q

angel mans s/s

A

laugh
seizures
ataxic gait

51
Q

phenotype

A

outward appearance of someone from genes and environments such as nutrition , outside factors

individuals observable traits - such as height, eye color, blood type

Anatomy Mid term (17 decks)

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