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Biochem 4 > Autosomal Recessive > Flashcards

Autosomal Recessive Flashcards

1
Q

Angelman syndrome involves active _______ from the _______ and inactive __________ from the ________

A

SNRPN from father

UBE3A from mother

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2
Q

Symptoms of hurler syndrome

A

Progressive intellectual disability, skeletal abnormalities, short stature, corneal clouding, and course facial features

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3
Q

Diseases with delayed age of onset can reduce

A

Natural selection against the disease

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4
Q

Example of a heterogenous disease

A

Osteogenesis imperfecta col1A1 gene on chromosome 17 or chromosome 7

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5
Q

Hereditary hemochromatosis treatment

A

Bloodletting

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6
Q

The loss of SNRPN can result in:

A

Prader-Willi syndrome

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7
Q

The hardy-Weinberg equation is used when ____________ is unavailable

A

Family (individual) history is available

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8
Q

Hurler syndrome is a ______________ disease

A

Autosomal recessive

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9
Q

P^2 =

A

Homozygous frequency

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10
Q

Q^2=

A

Homozygous frequency

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11
Q

It is estimated that each person carries five recessive genes in the heterozygous form that would result in lethal phenotype if they were present in a homozygous state. This is called:

A

Genetic burden

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12
Q

Treatment of hurler syndrome

A

Targeted enzyme replacement therapy, hematopoietic stem cell transplant

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13
Q

Penetrance versus variable expression

A

Penetrance = did inherent, did NOT express

Variable expression = did inherent, did express in some way

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14
Q

Imprinting involves:

A

Methylation of specific nucleotides in the DNA and generally transcriptionally silences the gene

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15
Q

When an individual consists of more than one distinct population in eggs or sperm is called

A

Germline mosaicism

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16
Q

What type of disorder is hurler syndrome?

A

Mucopolysacharidosis, a lysosomal storage disorder

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17
Q

The hardy-weinberg principle states that the frequency of ______ in a population is mathematically related to the frequency of _________ in a population

A

Alleles

Genotypes

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18
Q

HFE protein function

A

Detecting the amount of iron in the body and regulates the production of hepcidin, which influences iron absorption and release

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19
Q

A heterogeneous disease is one where mutations:

A

At different gene loci can produce the same disease phenotype

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20
Q

The hardy-weinberg principle equation is used most commonly for determining the likelihood that an individual is

A

Carrying a particular recessive disease allele

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21
Q

Reproduction among family members is referred to as:

A

Consanguinity

22
Q

How could one with the genotype of retinoblastoma (RB1) not present with the disease?

A

Reduced penetrance- manifesting a retinoblastoma usually requires a second mutation that inactivated the other RB1 gene allele, 10% of those with the mutant genotype will not develop the disease

23
Q

Anticipation in inheritance involves:

A

An earlier age of onset and/or more severe expression in more recent generations of a pedigree due to repeat expansions

24
Q

Most common cause of death among those with untreated hemochromatosis

A

Cardiac failure

25
Q

2pq =

A

Heterozygous frequency

26
Q

Example of a disease that can display anticipation

A

Myotonic dystrophy
Fragile X
Huntington disease

27
Q

Gene that Hurler syndrome effects

A

A-L-iduronidase

A= alpha

28
Q

Hereditary Hemochromatosis specific gene mutation

A

Single missense mutation

29
Q

Myotonic dystrophy specific gene mutation

A

DMPK gene- expansion of a trinucleotide repeat (CTG) in the 3’ untranslated portion of the gene

30
Q

Hereditary Hemochromatosis is a _______________ disease

A

Autosomal recessive

31
Q

The cause of anticipation is believed to be due to

A

Slippage of DNA polymerase during DNA replication leading to trinucleotide expansion

32
Q

Germline mosaicism involves a mutation:

A

Affected all or some of the germ cells in the ovaries or testes, but not enough of their somatic tissue to produce a phenotype in that parents

33
Q

Hereditary Hemochromatosis effects which gene

A

HFE (high iron)

34
Q

A recessive disease can be passed ________ through generations

A

Silently

35
Q

Founder Effect:

A

Intermarriage within small communities can lead to many individuals carrying the same recessive mutations from the founders

36
Q

UBE3A gene function

A

Ubiquitin-mediated protein degradation, strongly in the brain (cognition)

37
Q

Penetrate refers to:

A

The proportion of individuals carrying a particular genotype that also express the associated phenotype

38
Q

Prader-Willi syndrome involves active _________ from the ________ and inactive _________ from the _________

A

UBE3A from the mother

SNRPN from the father

39
Q

_________ is present more often in pedigrees involving autosomal recessive diseases, especially rare diseased

A

Consanguinity

40
Q

Why are males more commonly affected in hereditary hemochromatosis than females?

A

Delayed onset of disease (~30 years old), delayed further in women due to menstruation blood loss

41
Q

Hurler syndome results in the

A

Buildup of glycosaminoglycan in lysosomes

42
Q

On average, _____ of the offspring of the mating between two heterozygous carriers will be affected with the autosomal recessive disease

A

1/4

43
Q

Examples of pleiotropy

A

Cystic fibrosis, Marfan syndrome, NF1

44
Q

Loss of UBE3A gene is associated with

A

Angelman syndrome

45
Q

A _______ gene is one that exerts its effects on multiple aspects of physiology or anatomy

A

Pleiotropic

46
Q

When does re-imprinting occur?

A

During opogenesis or spermatogenesis

47
Q

Many recessive diseases involves mutations in genes that encode for

A

Enzymes

48
Q

Osteogenesis imperfecta can be a __________ disease

A

Germline mosaic autosomal dominant

49
Q

When two or more siblings are affected with an autosomal DOMINANT disease, but both parents are unaffected, ________ should be considered

A

Germline mosaicism of one of the parents

50
Q

SNRPN gene function

A

Small nuclear riboprotein expressed in the brain

Biochem 4 (9 decks)

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