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CYTO (2nd-3rd Shifting) > UNIT 10: PEDIGREE ANALYSIS > Flashcards

UNIT 10: PEDIGREE ANALYSIS Flashcards

1
Q

Coined the term** genetic counseling**

A

Sheldon Reed

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2
Q

Squares represent?

A

males

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3
Q

Circles represent?

A

Females

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4
Q

A horizontal line connecting 2 parents is called a?

A

marriage line

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5
Q

Circle with dot is for?

A

sex-linked recessive heterozygotes

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6
Q

Half-filled shapes are for?

A

autosomal recessive heterozygotes

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7
Q
A
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8
Q
A
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9
Q

non-identical twins are called?

A

dizygotic

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10
Q

the person in question is called

A

propositus/proband

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11
Q

AUTO OR SEX-LINKED?

equal amounts of males & females affected

A

autosomal

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12
Q

diseases that do not skip generations are _

A

dominant

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13
Q

AD/AR/XD/XR/Y/M

One mutated allele
causes the disease

A

AUTOSOMAL DOMINANT

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14
Q
A
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15
Q

T/F:

Autosomal recessive is seen in every generation

A

False

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15
Q

T/F:

No male-to-male transmission for x-linked dominant

A

True

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16
Q

T/F:

In x-linked recessive, both parents of an affected daughter must be carriers

A

True

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17
Q

X-linked recessive

_ cannot pass x-linked traits to their sons

A

fathers

they give Y, not X

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18
Q

Affected females pass this to ALL her children (male or female)

A

mitochondrial

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19
Q

AD/AR/XD/XR/Y/M

marfan syndrome

A

AD

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20
Q

AD/AR/XD/XR/Y/M

achondroplasia

A

AD

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21
Q

AD/AR/XD/XR/Y/M

Huntington’s disease

A

AD

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22
Q

AD/AR/XD/XR/Y/M

Myotonic dystrophy

(progressive muscle wasting & weakness)

A

AD

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23
Q

AD/AR/XD/XR/Y/M

beta thalassemia

A

AR

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24
Q

AD/AR/XD/XR/Y/M

Cystic fibrosis

A

AR

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25
Q

AD/AR/XD/XR/Y/M

Homocystinuria

A

AR

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26
Q

AD/AR/XD/XR/Y/M

Rett syndrome

27
Q

AD/AR/XD/XR/Y/M

Hypophosphatemia

28
Q

AD/AR/XD/XR/Y/M

HEMOPHILIA

29
Q

AD/AR/XD/XR/Y/M

Duchenne muscular dystrophy

30
Q

AD/AR/XD/XR/Y/M

LHON

Leber’s hereditary optic neuropathy

A

mitochondrial

31
Q

All males, all the time, all generations

32
Q

This type is intensified by consanguinity

A

autosomal recessive

33
Q

T/F:

in autosomal dominant, there is no sex preference

34
Q

autosomal dominant

g_ h_ could cause
un-expressed disease

A

genetic heterogeneity

35
Q

Expression of trait is only possible if you are
homozygous recessive

A

autosomal recessive

36
Q

sex-linked recessive/sex-linked dominant?

more common in males than females

A

sex-linked recessive

37
Q

sex-linked recessive/sex-linked dominant?

generally does not skip generations

A

sex-linked dominant

38
Q

Enumerate

possible confusers for sex-linked dominant (2 or 3)

A
  • x-inactivations or lyonizations
  • chimera cells
39
Q

In both autosomal and sex linked recessive, there is
always a/an _ expression of the trait

A

intermediate expression

40
Q

AD/AR/XD/XR/Y/M

Incontinentia pigmenti

41
Q

AD/AR/XD/XR/Y/M

Fragile X syndrome

42
Q

AD/AR/XD/XR/Y/M

inborn errors of metabolism

43
Q

AD/AR/XD/XR/Y/M

diseases affect the electron transport chain

A

mitochondrial

44
Q

AD/AR/XD/XR/Y/M

polycystic kidney disease

45
Q

AD/AR/XD/XR/Y/M

cystic fibrosis

46
Q

AD/AR/XD/XR/Y/M

Tay-sachs

47
Q

AD/AR/XD/XR/Y/M

maple syrup urine disease

48
Q

AD/AR/XD/XR/Y/M

FRECKLES

49
Q

AD/AR/XD/XR/Y/M

polydactylism

50
Q

AD/AR/XD/XR/Y/M

x-linked ichthyosis

51
Q

AD/AR/XD/XR/Y/M

red-green color blindness

52
Q

AD/AR/XD/XR/Y/M

hemophilia

53
Q

XR or XD?

trait is rare in pedigree

54
Q

XR or XD?

defects in enzymatic genes

A

x-linked recessive

55
Q

XR or XD?

defects in structural genes

A

x-linked dominant

56
Q

AD/AR/XD/XR/Y/M

x-linked rickets

57
Q

other name for y-linked inheritance

A

holandric inheritance

58
Q

Y-LINKED INHERITANCE

TDF

A

testis determining factor

59
Q

Y-LINKED INHERITANCE

component protein of gums

A

AMGL (amelogenin)

60
Q

Y-LINKED INHERITANCE

what gene is deleted in azoospermia?

61
Q

AD/AR/XD/XR/Y/M

defects in oxidative phosphorylation process

A

mitochondrial

62
Q

An autosomal dominant genetic disorder that
affects the central nervous system of human beings.

A

huntington’s disease

63
Q

A human metabolic disease caused by a mutation in
a gene encoding a phenylalanine-processing
enzyme

A

phenylketonuria

64
Q

T/F:

phenylketonuria is an autosomal dominant trait

A

FALSE

autosomal recessive

CYTO (2nd-3rd Shifting) (5 decks)

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