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Fundamentals of Medicine: Exam II > Genetic Inheritance > Flashcards

Genetic Inheritance Flashcards

1
Q

A _____ disorder has the same phenotype for heterozygous and homozygous state.

A

Dominant

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2
Q

______ is when a more severe phenotype is seen with both affected alleles compared to one affected allele. ______ is when both alleles are manifested in the phenotype (example: blood type)

A

Semidominant
Codominant

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3
Q

What trait is this representing

A

Dominant trait

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4
Q

Relative risk depends on the _____ of the mutant gene/disease

A

Penetrance

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5
Q

There is a_____ risk to each son or daughter to inherit a mutant dominant gene.

A

50%

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6
Q

If you see male to male transition, it is not _____ inheritance

A

X-linked

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7
Q

What type of inheritance is this showing

A

Autosomal dominant inheritance

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8
Q

What type of inheritance is this showing

A

Dominant inheritance, the skipped generation shows reduced penetrance

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9
Q

____ ___ _____ is seen in my types of cancer. This is when one inherited mutation is followed by loss of function of the second good allele. This is also described as _____ fashion at the level of organism but are _____ at the level of the cell.

A

Loss of heterozygosity
Dominant
Recessive

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10
Q

Loss of heterozygosity is also know as _____ ____ hypothesis.

A

Knudson’s two hit

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11
Q

_____ _____ is an autosomal dominant disease caused by mutations in the LDLR gene, but can be caused by other genes, thus demonstrates _____ heterogeneity

A

Familial hypercholesterolemia
Locus

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12
Q

Neurofibromatosis has 100% penetrance but _____ ____, meaning the phenotypes vary in severity based on the nature of the mutation in the NF1 gene. This disease causes tumors on the skin which show extensive _____, meaning phenotypic expression in a wide range of tissues.

A

Variable expressivity
Extensive pleiotropy

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13
Q

What does this show?

A

A dominant inheritance. The mutation likely arose in a proband of generation III, possibly a mutation in the germ line of parents

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14
Q

______ is a dominant inheritance disease classified by the gain of function of a growth factor receptor. Homozygous is lethal.

A

Achondroplasia

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15
Q

LDLR Familial hypercholesterolemia is a ______ inherited disease. It also shows semidominance. This is an example of a disease where the deficiency in one tissue (_____) leads to a clinical phenotype in a different tissue (_____)

A

Dominant
Liver
Cardiovascular

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16
Q

_____ ____ is a dominant inheritance disease. A ____ variant in collagen genes form a more severe form of this disease. Altered collagen can’t interact with normal collagen. This interferes with the normal function of the other ____.

A

Osteogenesis imperfecta
Missense
Allele

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17
Q

____ ____ phenotypes in autosomal dominant disorders is when one sex is more affected than the other or only one sex is affected. An example is male-limited precocious puberty: growth spurt at the age of 4

A

Sex-limited

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18
Q

What is this pedigree showing?

A

Sex-limited phenotype in autosomal dominant inheritance. Only affecting males and there is male to male inheritance so it can’t be X-linked

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19
Q

Some phenotypes are dominant due to ___ __ ___, meaning the new variant has a new or altered function. ____ ____ ____, meaning interference with other gene products that work together. _______ meaning too little protein is made due to one copy of the gene missing. Or ____ ____ hypothesis, meaning one allele is defective and the other allele taken out (recessive on a cellular level).

A

Gain of function
Dominant negative effect
Haploinsufficiency
Knudsen 2hit

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20
Q

What does this show?

A

Dominant inheritance with variable expression and incomplete penetrance

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21
Q

When affected individuals in the same family (same genetic variant) have different features of the disease this is called ___ ___.

A

Variable expressivity

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22
Q

_____ is the proportion of individuals carrying a particular variant that manifests the associated phenotype

A

Penetrance

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23
Q

_____ is when successive generations have more severe or earlier age of onset of the disease.

A

Anticipation

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24
Q

In dominant inheritance parents are often _____. In recessive parents are usually not _____.

A

Affected
Affected

25
Q

______ means that both alleles of the gene have to be affected to show the phenotype. ____ _____ means it can be two different mutant alleles but both are nonfunctional.

A

Recessive
Compound heterozygous

26
Q

What does this show?

A

Recessive inheritance

27
Q

In recessive inheritance there is a ____ risk to each son and daughter

A

25%

28
Q

_____ inheritance may be more common in certain populations.

A

Recessive

29
Q

What does this show?

A

Recessive inheritance

30
Q

What does the thicker line show?

A

Consanguinity: parents are closely related individuals like 1st cousins

31
Q

What does this show?

A

Autosomal recessive with carriers and consanguinity

32
Q

What does this show?

A

Autosomal recessive
Clue: only in one generation, parents are not affected

33
Q

______ is the most common inherited disease in the world. Homozygous is ____. Heterozygous shows a resistance to ____. Heterozygous advantage

A

Hemoglobinapathies (sickle cell anemia)
Lethal
Malaria

34
Q

____ ____ is due to variants in CFTR. It has ____ heterogeneity meaning many different alleles cause it.

A

Cystic fibrosis
Allelic

35
Q

_____ is caused by mutations in phenylalanine hudroxylase gene (PAH). It is tested in new borns. ____ inheritance, thus the risk for passing it on to kids is 25%

A

Phenylketonuria (PKU)
Recessive

36
Q

____ ____ autosomal recessive disorders are when both sexes can develop a disease but one sex has a significantly higher frequency

A

Sex-influenced

37
Q

Biochemical disorders caused by enzyme activity decencies are very frequently autosomal _____.

A

Recessive

38
Q

If the functioning allele is sufficient to prevent disease state, the disease inherits as ____.

A

Recessive

39
Q

One consequence of ____ is that many rare recessive disorders are observed at a much higher frequency. And example is Tay-Sachs

A

Inbreeding

40
Q

What does this show?

A

X-linked inheritance

41
Q

Males have one X chromosome and are all _____ for X-linked disorders. Females can be ____ or ____.

A

Hemizygous
Homozygous
Heterozygous

42
Q

Sons of affected males are never affected in ____ inheritance

A

X-linked

43
Q

In heterozygous mothers for an X-linked disorder, ____ percent of sons are hemizygous. ____ percent of daughters are heterozygous (carriers)

A

50
50

44
Q

In mammalian female somatic cells, one X chromosome is active and the other one condenses. The condensed X is called a ___ ___. Overall this is called ___ ____ and occurs randomly.

A

Barr body
X inactivation

45
Q

X inactivation is _____ meaning after one X chromosome is inactivated, all of that cell’s descendants have the same inactive X

A

Clonal

46
Q

____ ____ is an example of X inactivation. Swirls of disease is seen on the skin.

A

Incontinentia pigmenti

47
Q

Daughter of hemizygous males in and X-linked disorder, are all _____ because dad can only donate his one “bad” X chromosome to daughters.

A

Carriers

48
Q

_____ dominant disorders are rare. Only about 20 genes on the Y chromosome

A

Y-linked

49
Q

Dysfunction of mitochondria occurs when a ____ that is needed by the mitochondria is missing. This causes a lack of ___ production.

A

Protein
ATP

50
Q

Most mitochondrial disorders result from variants in the DNA inside the _____.

A

Nucleus

51
Q

Almost all mitochondria come from the ____. Pedigree will show affected females in the generation above.

A

Mother

52
Q

What does this show?

A

Maternal inheritance in mitochondrial disorder

53
Q

In mitochondrial disorders, _____ refers to the coexistence of multiple mitochondrial DNA types within a single cell. The disorder can vary through the body from tissue to tissue. Can vary by age and activity levels.

A

Heteroplasmy

54
Q

In mitochondrial disorders, ____ ____ refers to the absence of tightly controlled segregation in mitochondrial DNA. Mitochondria are randomly distributed between the two daughter cells.

A

Replicative segregation

55
Q

In mitochondrial disorders, ___ ___ refers to how many mutant mitochondria are needed to express a disease. Symptoms depend on whether or not tissue is affected depends on the metabolic needs of the tissue

A

Threshold effect

56
Q

Mitotic disorders most heavily affect the ____, ____, and ____

A

Brain
Heart
Liver

57
Q

An example of _____ ____ is X inactivation. This also occurs in early development, one mutation will be passed on to daughter cells. They go on to form a mutated tissue.

A

Mutational mosaicism

58
Q

There is controversial evidence of ____ ___ ____, meaning non Mendelian inheritance (non gene based inheritance). This stresses the importance of environmental factors affecting one generation that affects the phenotype of a later generation.

A

Transgenerational epigenetic inheritance

Fundamentals of Medicine: Exam II (19 decks)

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