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Human Genetics > Lecture 3 > Flashcards

Lecture 3 Flashcards

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1
Q

True or False: Two different genotypes may have the same phenotype

A

True (e.g dominant homozygote and heterozygote for CF have same “normal” phenotype - AA vs. Aa)

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2
Q

___ risk: no affected child yet born
___ risk: have one or more affect kids

A

Occurrence Risk
Recurrence Risk

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3
Q

What is an example in which the same genotype may productive different phenotypes in different environments?

A

PKU
- If diet that is low in phenylalanine is initiated within 1 month of birth, individual with genotype does not have phenotype of intellectual disability

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4
Q

True or False: First degree relatives are those related at the parent offspring or sibling level while Second degree relatives are removed by one additional generation step (e.g grandparents, grandkids)

A

True

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5
Q

___-degree relatives include first cousins and great grandchildren

A

Third-degree

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6
Q

An arrow usually denotes the ___ or first individual diagnosed in the pedigree or the person from whom the pedigree is drawn

A

proband

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7
Q

Mutations in __ gene results in PKU, which is a disease in which person is unable to metabolized phenylalanine

A

PAH

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8
Q

True or False: Environment can include genetic environment, as well as external environment

A

True

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9
Q

What are four features of autosomal dominance?

A

1) Vertical transmission
2) No skipped generations
3) Equal proportion of females and males
4) Father to son transmission possible

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10
Q

Postaxial polydactylyl is an example of an ____ ___ trait
A. Autosomal recessive
B. Autosomal dominant
C. X-linked

A

B. Autosomal dominant

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11
Q

True or False: In autosomal dominant traits, males and females are affected with equal frequency and male to male transmission of trait can occur

A

True

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12
Q

True or False: In autosomal dominant traits, unaffected individuals have affected offspring

A

False - in autosomal dominant traits, unaffected individuals do NOT have affected offspring

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13
Q

True or False: In autosomal dominant inheritance, the heterozygous state is MORE severe than the homozygous state

A

False - heterozygous state is LESS severe than homozygous

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14
Q

What type of mutations are common in autosomal dominant traits?

A

Spontaneous mutations

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15
Q

First degree relatives (parents and kids or parents and sibling) share ___% of DNA

Second degree relatives (grandkids and grandparents) share __% of DNA

Third degree relatives (first cousins) share __% of DNA

A

50%
25%
12.5%

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16
Q

What’s the difference between a first cousin once removed and a second cousin?

A

First cousin once removed
- First cousin of your parent
- Child of first cousin

Second cousin:
- Children of first cousins are second cousins to each other

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17
Q

True or False: Children of second cousins are third cousins to each other

A

True

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18
Q

When inheritance of a single gene results in a phenotype, this is known as ____ inheritance

A

Mendelian

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19
Q

True or False: Most affected individuals are heterozygous and have one affected heterozygous (Aa) parent and one unaffected homozygous (aa) parent

A

True

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20
Q

Which four disorders are inherited as autosomal dominant traits? Which genes are associated?

A

1) Huntington’s Disease - HTT gene
2) Marfan Syndrome - FBN1 gene
3) Neurofibromatosis Type 1 - NF1 gene
4) Retinoblastoma - Rb gene

21
Q

On average, ___ of the offspring of affect individuals are affected
A. 1/4
B. 1/2
C. 100%

A

1/2

22
Q

True or False: In autosomal dominant traits, genetically unaffected persons do not have affected offspring

A

True

23
Q

True or False: In autosomal dominant traits, the trait rarely shows variation in expression

A

False - in autosomal dominant traits, the trait FREQUENTLY shows variation in expression

24
Q

In autosomal dominant traits, basic defects tend to involve _____ _____

A

structural protein

25
Q

What are two diseases in which homozygous state is more severe?

A

1) Factor V Leiden Mutation
2) Prothrombin Mutation

  • inherited thombophilia
26
Q

Who is at a greater risk for a DVT?
A. Heterozygote with Factor V Leiden mutation
B. Homozygous with Factor V Leiden mutation

A

B. Homozygous with Factor V Leiden mutation

27
Q

Mutation in the ___ gene can lead to Factor V Leiden mutation, which follows a autosomal dominant inheritance and is more severe in homozygotes
A. CY11B2
B. F5
C. F2

A

B. F5

28
Q

True or False: A G20210A mutation in the F2 gene can give rise to Factor V Leiden mutation

A

False - A G20210A mutation in the F2 gene can give rise to the Prothrombin mutation

29
Q

True or False: Factor V Leiden mutation is more severe in homozygotes while Prothrombin mutation is more severe in heterozygotes

A

False - both Factor V Leiden and Prothrombin mutation are MORE severe in homozygotes

30
Q

True or False: For both Factor V Leiden mutation and Prothrombin mutation, there is hormonal influence on disease expression

A

True

31
Q

True or False: In sex-linked disorders, one sex may be more apt to express disease phenotype

A

True

32
Q

True or False: Male and females are not equally likely to inherit BRCA mutations. However, males are still very likely to develop breast cancer.

A

False - male and females ARE equally likely to inherit BRCA mutations and males are UNLIKELY to develop breast cancer

33
Q

Who can pass the mutant BRCA allele to daughter, who then develop breast cancer at a young age?
A. Unaffected father
B. Unaffected mother
C. Affected mother
D. Affected father

A

A. Unaffected father

34
Q

True or False: A person can appear to have no family history of breast cancer if the allele has been passed from male to male in previous generations

A

True

35
Q

What are four features of autosomal recessive inheritance?

A

1) Horizontal transmission
2) Skipped generations
3) Equal proportions of female and males
4) Father to son transmission possible

36
Q

True or False: Persons affected with autosomal recessive diseases ALWAYS have two carrier (heterozygous) parents

A

False - Persons affected with autosomal recessive diseases ALMOST ALWAYS have two carrier (heterozygous) parents

37
Q

True or False: BRCA1 and BRCA2 genetic mutations are examples of a sex-limited disorder

A

True

38
Q

Tyrosine-negative albinism is an example of which type of inheritance?
A. Autosomal Dominant
B. Sex-limited
C. Sex-linked
D. Autosomal Recessive

A

D. Autosomal Recessive

39
Q

Provide 6 examples of autosomal recessive disorders:
(hint: Gun Shot Wound, THC)

A

G - Gaucher Disease (N370S)
S - Sickle Cell (HbB)
W - Wilson’s Disease (ATP7B)

Tay Sachs (HEXA)
Hereditary Hemochromatosis (HFE)
CF (CFTR)

40
Q

True or False: Almost all persons with hereditary hemochromatosis have two carrier parents

A

True - since hereditary hemochromatosis is a autosomal recessive condition

41
Q

True or False: A person with an autosomal recessive disorder may have two of the SAME mutant alleles or two DIFFERENT mutant alleles (compound heterozygote)

A

True

42
Q

True or False: Many people with hemochromatosis have two different mutations in HFE

A

False - many people with CF have two DIFFERENT mutations in CFTR

43
Q

Many people with this autosomal recessive disorder are compound heterozygotes:
A. Wilson Disease
B. Sickle Cell Disease
C. CF
D. Tay Sachs Disease
E. Gaucher Disease
F. Hereditary Hemochromatosis

A

F. Hereditary Hemochromatosis

44
Q

____, an iron storage disorder, is both autosomal recessive and sex limited
A. Wilson Disease
B. Sickle Cell Disease
C. CF
D. Tay Sachs Disease
E. Gaucher Disease
F. Hereditary Hemochromatosis

A

F. Hereditary Hemochromatosis

45
Q

Why does iron not build up in women with hemochromatosis to the same degree as men?

A

Menses

46
Q

True or False: Women with hemochromatosis present at older ages than men

A

True

47
Q

What is the prevalence of affect children in autosomal recessive inheritance?
A. 100%
B. 75%
C. 50%
D. 25%

A

D. 25%

48
Q

True or False: In autosomal recessive inheritance, disease phenotype is not seen in every generation and males and females are affected with equal frequency

A

True

49
Q

A high prevalence of a rare autosomal recessive disease suggests _____, which is mating of closely related individuals (usually first cousins)

A

consanguinity

Human Genetics (7 decks)

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