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Genomics > Inheritance Patterns > Flashcards

Inheritance Patterns Flashcards

1
Q

Shape of males in pedigree drawing

A

Square

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2
Q

Shape of females in pedigree drawing

A

Circle

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3
Q

In a pedigree drawing, what do partners have between them?

A

Partners have a line between them

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4
Q

In a pedigree drawing, what do siblings have above them

A

Siblings have a line above them

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5
Q

In a pedigree drawing, who are shaded?

A

People who are affected are shaded

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6
Q

In a pedigree drawing, who have dots inside?

A

Carriers have dots inside

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7
Q

In a pedigree drawing, what do double lines mean?

A

Are a consanguineous couple(Same blood)

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8
Q

What does SB on a pedigree drawing mean?

A

Still born baby

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9
Q

What does the diamond symbol in a pedigree drawing represent?

A

Means unknown sex

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10
Q

What do small triangle symbols in a pedigree drawing represent?

A

Spontaneous abortion

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11
Q

What does a triangle with a line going through it represent?

A

Represents therapeutic abortion

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12
Q

What represents identical twins, non-identical twins?

A

Identical twins have diagonal lines and a line between them

Non identical twins have only diagonal lines

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13
Q

What does a diamond with the letter P inside represent?

A

Represents someone who is pregnant of a child with an unknown sex

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14
Q

What symbol represents no offspring?

A

SEARCH ONLINE

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15
Q

In what form are autosomal dominant inheritance?

A

Clearly in heterozygous form

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16
Q

How many generations are affected by autosomal dominant inheritance?

A

Multiple generations are affected by autosomal dominant inheritance

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17
Q

What will most individuals with autosomal dominant inheritance have?

A

Most will have an affected parent

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18
Q

What is the risk to offspring for autosomal dominant inheritance?

A

50% risk to offspring

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19
Q

Characteristics of autosomal dominant inheritance

A
  • Most individuals have an affected parent
  • Males and females are equally likely to inherit
  • An affected individuals siblings/children whom aren’t affected, do not carry the mutation and cannot pass it on to their offspring
20
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What is penetrance and incomplete penetrance?

A

Penetrance is the percentage of individuals who carry the mutation and develop symptoms of the disorder
-Many dominant disorders show age dependent penetrance
Incomplete penetrance is when you have the genotype, but not phenotypically expressed

21
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What is variable expressivity?

A

Variation in several symptoms of disorders between individuals with the same mutation

22
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What varies between autosomal dominant disorders?

A

De novo mutation rate varies considerably between autosomal disorder conditions

23
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What is somatic mosaicism?

A

It is when new mutation arises in early stages of embryogenesis
-Present in only some tissue/cells

24
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What is germ line mosaicism?

A

It is when new mutations arise during oogenesis or spermatogenesis
-Mutation present in variable proportion of gametes and can be transmitted to offspring

25
Q

FEATURES OF AUTOSOMAL DOMINANT INHERITANCE

What is anticipation?

A

Worsening of disease severity in successive generations

-Characteristically occurs in triplet repeat disorders

26
Q

In what form is autosomal recessive inheritance?

A

Clearly in homozygous form

27
Q

Who aren’t affected by autosomal recessive inheritance?

A

Carriers aren’t affected

28
Q

What sexes are affected by autosomal recessive inheritance?

A

Both sexes affected

29
Q

How many generations are affected by autosomal recessive inheritance?

A

Usually one generation affected

30
Q

What may be a factor of autosomal recessive inheritance?

A

May be consanguinity

31
Q

What are compound heterozygotes?

A

-2 mutations in the same gene however these mutations are different

32
Q

What is a homozygote?

A

-2 mutations in the same gene however these mutations are identical

33
Q

What are the features of autosomal recessive inheritance?

A
  • Trait often found in clusters of siblings

- All offspring of affected person are obligate carriers

34
Q

Chromosomes in men and women

A

Men-XY

Women-XX

35
Q

What are the affects on BOTH genders of X-linked inheritance?(Recessive)

A
  • Women are carriers and are unaffected

- No male to male transmission

36
Q

What are the affects on BOTH genders of X-linked inheritance?(Dominant)

A
  • Women are affected

- Males are more severely affected

37
Q

What type of genes are never passed from father to son?

A

X-linked genes never passed from father to son

38
Q

In X-linked recessive inheritance, who are the obligate carriers?

A

All daughters of affected males are obligate carriers

39
Q

In X-linked recessive inheritance, what do children of carrier females have a chance of inheriting mutant alleles?

A

Children of carrier females have a 50% chance of inheriting mutant alleles

40
Q

What is skewed X-inactivation in X-linked recessive inheritance?

A

Normally the majority of genes on one of a women’s X chromosome are inactivated

41
Q

Who are manifesting carriers?

A

Some women who have symptoms in x-linked recessive conditions?

42
Q

Y linked inheritance

A

Always and only passed through fathers to sons

43
Q

What is a mutation?

A

Change in genetic material

44
Q

What do a pathogenic mutation result in?

A

Results in an alteration of the function of the gene product and can cause disease

45
Q

What is a silent mutation?

A

A base change has no change in the amino acid

Genomics (19 decks)

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