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

UNIT 10: PEDIGREE ANALYSIS Flashcards

(65 cards)

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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
# AD/AR/XD/XR/Y/M Cystic fibrosis
AR
25
# AD/AR/XD/XR/Y/M Homocystinuria
AR
26
# AD/AR/XD/XR/Y/M Rett syndrome
XD
27
# AD/AR/XD/XR/Y/M Hypophosphatemia
XD
28
# AD/AR/XD/XR/Y/M HEMOPHILIA
XR
29
# AD/AR/XD/XR/Y/M Duchenne muscular dystrophy
XR
30
# AD/AR/XD/XR/Y/M LHON | Leber's hereditary optic neuropathy
mitochondrial
31
All males, all the time, all generations
y-linked
32
This type is intensified by consanguinity
autosomal recessive
33
# T/F: in autosomal dominant, there is no sex preference
true
34
# autosomal dominant g_ h_ could cause un-expressed disease
genetic heterogeneity
35
Expression of trait is only possible if you are homozygous recessive
autosomal recessive
36
# sex-linked recessive/sex-linked dominant? more common in **males** than females
sex-linked recessive
37
# sex-linked recessive/sex-linked dominant? generally does not skip generations
sex-linked dominant
38
# Enumerate possible confusers for sex-linked dominant (2 or 3)
* x-inactivations or lyonizations * chimera cells
39
In both autosomal and sex linked recessive, there is always a/an _ expression of the trait
intermediate expression
40
# AD/AR/XD/XR/Y/M Incontinentia pigmenti
XD
41
# AD/AR/XD/XR/Y/M Fragile X syndrome
XR
42
# AD/AR/XD/XR/Y/M inborn errors of metabolism
XR
43
# AD/AR/XD/XR/Y/M diseases affect the **electron transport chain**
mitochondrial
44
# AD/AR/XD/XR/Y/M polycystic kidney disease
AD
45
# AD/AR/XD/XR/Y/M cystic fibrosis
AR
46
# AD/AR/XD/XR/Y/M Tay-sachs
AR
47
# AD/AR/XD/XR/Y/M maple syrup urine disease
AR
48
# AD/AR/XD/XR/Y/M FRECKLES
AD
49
# AD/AR/XD/XR/Y/M polydactylism
AD
50
# AD/AR/XD/XR/Y/M x-linked ichthyosis
XR
51
# AD/AR/XD/XR/Y/M red-green color blindness
XR
52
# AD/AR/XD/XR/Y/M hemophilia
XR
53
# XR or XD? trait is **rare** in pedigree
XR
54
# XR or XD? defects in **enzymatic** genes
x-linked recessive
55
# XR or XD? defects in **structural** genes
x-linked dominant
56
# AD/AR/XD/XR/Y/M x-linked rickets
XD
57
other name for y-linked inheritance
**holandric inheritance**
58
# Y-LINKED INHERITANCE TDF
testis determining factor
59
# Y-LINKED INHERITANCE component protein of gums
AMGL (amelogenin)
60
# Y-LINKED INHERITANCE what gene is deleted in azoospermia?
DAZ
61
# AD/AR/XD/XR/Y/M defects in **oxidative phosphorylation** process
mitochondrial
62
An autosomal dominant genetic disorder that affects the central nervous system of human beings.
huntington's disease
63
A human metabolic disease caused by a mutation in a gene encoding a **phenylalanine**-processing enzyme
phenylketonuria
64
# T/F: phenylketonuria is an autosomal dominant trait
FALSE | autosomal recessive

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

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