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GBA Genetics > Pedigree Analysis - Monogenic Disorders > Flashcards

Pedigree Analysis - Monogenic Disorders Flashcards

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Biology 101 flashcards
1
Q

What are the 5 Mendelian Monogenic inheritance options?

A

Autosomal Dominant (AD)

Autosomal Recessive (AR)

X-linked Dominant (XD)

X-linked Recessive (XR)

Y-linked

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2
Q

What is the Non-mendelian Monogenic inheritance options?

A

Mitochondrial

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3
Q

Phenotype, gender, carrier indication symboles

A
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4
Q

Familly and Children indication symboles

A
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5
Q

Death, abortion, generations, merge, proband and consultanted symboles indications

A
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6
Q

What kind of pedigree?

A

Autosomal dominant pedigree

VERTICAL PEDIGREE - Gain of Function

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7
Q

Which genotypes will be healthy and ill?

A

AA, Aa = Disease

aa = Healthy

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8
Q

What are examples for this kind of inheritance?

A

Osteogeneisis imprefecta

Achondroplasia

Huntington

Marfan syndrome

F. Hypercholesterolemia (LDLR)

Waardenburg syndrome

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9
Q

What kind of pedigree?

A

Autosomal Recessive

HORIZONTAL PEDIGREE - Loss of Function

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10
Q

Which genotypes will be healthy and ill?

A

AA, Aa = Healthy

aa = Disease

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11
Q

What kind of pedigree?

A

Autosomal recessive inheritance with consanguineous marriage

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12
Q

What are examples for this kind of inheritance?

A

Phenylketonuria (PAH: phenylalanine hydroxylase)

Albinism (tyrosinase)

Cystic fibrosis (CFTR)

Sickle cell anemia (b-globin)

Thalassaemia (b-globin)

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13
Q

What kind of pedigree?

A

X-linked dominant inheritance

•The ratio of affected females to affected males is ~ 2:1

VERTICAL PEDIGREE

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14
Q

What kind of pedigree?

A

X-linked dominant inheritance

•The ratio of affected females to affected males is ~ 2:1

VERTICAL PEDIGREE

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15
Q

What kind of pedigree?

A

X-linked dominant inheritance

•The ratio of affected females to affected males is ~ 2:1

VERTICAL PEDIGREE

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16
Q

What are examples for this kind of inheritance?

A
  • Amelogenesis imperfecta (amelogenin)
  • Hypophosphataemia (phosphate-regulating endopeptidase: PHEX)
  • Fragile X-syndrome (FMR1)
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17
Q

What kind of pedigree?

A

X-linked recessive inheritance

HORIZONTAL PEDIGREE

CRISS-CROSS PATTERN

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18
Q

What kind of pedigree?

A

X-linked recessive inheritance

HORIZONTAL PEDIGREE

CRISS-CROSS PATTERN

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19
Q

What kind of pedigree?

A

X-linked recessive inheritance

HORIZONTAL PEDIGREE

CRISS-CROSS PATTERN

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20
Q

What are examples for this kind of inheritance?

A

Duchenne and Becker muscular dystrophy (dystrophin)

Red-green colour blindness (multiple forms)

Hemophilia A, B (coagulation factor VIII, IX)

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21
Q

What kind of pedigree? Example?

A

Y-linked inheritance

VERTICAL PEDIGREE

SRY - Azoospermia

22
Q

What kind og pedigree? Example?

A

Mitochondrial (maternal) inheritance (Non-Mendelian)

Leber’s optic atrophy

23
Q

Conditional lethality: Example

A

glucose-6-phosphate dehydrogenase (G6PD) deficiency

24
Q

Penetrance - What is it?

Effecting Factors:

A

The probability of a genotype that will manifest the trait

Large population studies is needed to define the penetrance.

The proportion of persons show the expected phenotype among the people with known genotype.

Effecting Factors:

¨Other (modifier) genes, environmental effects, Age

25
Q

Calculate the Penetrance

A

5/6*100 = 83%

26
Q

Variable Expressivity - Example?

A

Polydactyly

Different amount of fingers with same genes!

27
Q

Anticipation - What is it? Example?

A

Special type of variable expressivity

Worsens as generations pass on

Huntington Disease

28
Q

Phenocopy - What is it? Examples?

A

Environmental conditions could induce symptoms/traits identical to a phenotype determined by a genotype

Deafness : Rubella infection instead of eg. cx26 mutation, AR

Blindness: Rubella infection, toxoplasmosis instead of Different forms of Leber’s congenital amaurosis (AR)

29
Q
A

XR

30
Q
A

AD

31
Q
A

AR

32
Q
A

XD

33
Q
A

Mitochondrial (maternal)

34
Q

Extesions of mendalian Inheritance

Conditional Leathality

A

Extesions of mendalian Inheritance

Like favisim - G6PD upon leathal stimulus

35
Q

Extesions of mendalian Inheritance

How is it marked?

A

Extesions of mendalian Inheritance

small symbole in the pedgree

36
Q

Extesions of mendalian Inheritance

Penetrance

A

Extesions of mendalian Inheritance

37
Q

Extesions of mendalian Inheritance

Age dependent penetrance - Example

A

Extesions of mendalian Inheritance

Hemochromatosis in more than 40 years old males

38
Q

Extesions of mendalian Inheritance

A

Extesions of mendalian Inheritance

5/6

39
Q

Extesions of mendalian Inheritance

FACTORS EFFECTING PEDEGREE

A

Extesions of mendalian Inheritance

40
Q

Extesions of mendalian Inheritance

Phenocopy

A

Extesions of mendalian Inheritance

41
Q

Extesions of mendalian Inheritance

Rett Syndrome and the phenocopy of it

A

Extesions of mendalian Inheritance

42
Q

What is the genotype of 1/I ?

A

Since Hemophillias have of X-Linked Ressecive inheritance the father must be Hemizygote Dominant (XY not xY, X is the diseased one))

43
Q

What does the star means?

A

Mutated cleavage site

44
Q

What does the rhomboid with dashes means?

A

Pregnancy of unknown fetal sex

45
Q

What is Epistasis?

A

Epistasis

describes how gene interactions can affect phenotypes.
When two different genes contribute to a single phenotype, those genes are said to be epistatic.
An allele of a gene masks or modifies the effects of alleles of one or more other genes

46
Q

What is Recessive Epistasis?

A

Recessive Epistasis

Homozygote recessive genotype of a locus masks the expression of another gene.
Examples- Bombay blood group, coat color of dogs or eye colors

47
Q

As you check a pedgree you notice that all of an affected female daughters offsprings are affected - 3 generations down the line (along with some males), what is the inheritance pattern based on that?

A

Mitochondrial Inheritance

48
Q

As you check a pedgree you notice that all of an affected male daughter offsprings are affected - 3 generations down the line. The male offsprings are healthy. what is the inheritance pattern based on that?

A

X-linked Dominant

49
Q

As you check a pedgree you notice that all of an affected male daughters offsprings are affected - 3 generations down the line. The male offsprings are all affected as well. what is the inheritance pattern based on that?

A

Autosomal Dominant

50
Q

As you check a pedgree you notice that one of an affected male daughters is affected. Her brothers are all healthy. The sister of that dad is healthy while all her sons are effected. what is the inheritance pattern based on that?

A

X-Linked Recessive

51
Q

As you check a pedgree you notice that all of an affected dad sons are affected. There are no females affected 3 generations down the line. what is the inheritance pattern based on that?

A

Y-Linked (It is Vertical)

52
Q

As you check a pedgree you notice that not all of an affected dad sons are affected, just one. This son’s dauther is healthy but her daughter is affected. what is the inheritance pattern based on that?

A

Autosomal Recessive

GBA Genetics (16 decks)

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