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Genetics > Quiz II Review > Flashcards

Quiz II Review Flashcards

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1
Q

What is this explaining? Given that someone has inherited the mutant allele, what is the chance that they will express the phenotype…

A

Penetrance

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2
Q

What is this explaining? Given that a person who has inherited a mutant allele expresses the trait, how severely affected are they?

A

VE…Variable Expressivity

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3
Q

What types of disorders exhibit ANTICIPATION?

A

Repeat Expansion Disorders

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4
Q

What type of disorder shows increased severity and/or decreased age at onset in successive generations? What is the term used to describe this disorder?

A

Repeat Expansion Disorder….Anticipation

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5
Q

What type of disorder reflects increased number of repeats as passed from generation to generation?

A

Repeat Expansion Disorders

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6
Q

What is differential modification and expression of alleles of a gene depending on the sex of the parent of origin?

A

Imprinting

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7
Q

What are the two main examples of IMPRINTING?

A

Prader-Willi=Father….Angelman=mother

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8
Q

What are these TWO BIG clues related to? 1. Association of Uniparental Disomy (UPD) with abnormal development 2.Association of consistent parental origin of mutant allele in inherited disorder

A

Imprinting

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9
Q

_______ allele usually refers to silent, inactivated allele

A

Imprinted

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10
Q

What is the inheritance of 2 copies of a gene or chromosome from 1 parent?

A

Uniparental Disomy

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11
Q

What mechanism has implications for recessive disorders and imprinted disorders in which it was first described in a child with cystic fibrosis; only the mother was a carrier? It si also very important for PWS and AS…

A

Uniparental Disomy

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12
Q

Who do you receive your mitochondrial DNA from?

A

jo mamma!

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13
Q

Does mitochondrial DNA have histones?

A

Nope

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14
Q

What is the term used in mitochondrial genetics where you can have BOTH wild type AND mutant mitochondrial DNA?

A

HeteroPlasmy

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15
Q

What is the term for the DOSE load of mutant DNA must meet a certain level before the phenotype is expressed?

A

Threshold effect

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16
Q

Mutation Nomenclature: p.Gly17Arg

A

(p.=protein)….aa substitution, missense

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17
Q

Mutation Nomenclature: p.Gly17*

A

stop codon, nonsense

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18
Q

Mutation Nomenclature: p.Leu6Hisfs*3

A

frameshift mutation due to insertion or deletion of 1 or 2 nucleotides

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19
Q

Mutation Nomenclature: c.101-2A>T

A

splicing mutation of intron

20
Q

What kind of mechanism is Achondroplasia? What happens with the Homozygous form?

A

Autosomal Dominant…its leathal

21
Q

What is the most common form of intellectual disability?

A

fragile X

22
Q

What happens when a PT testing for fragile X does not show ANY markers on PCR?

A

the patient has more then 100 repeats of the gene and is therefore going to need a SOUTHERN BLOT. the chances of the patient being affected by intellectual disability are very high.

23
Q

What are the two mechanism of inheritance in achondroplasia?

A

Autosomal Dominant or Incomplete Dominance

24
Q

In Achondroplasia, De Novo mutations are ALWAYS passed down by the ______. WHAT % are De Novo?

A

FATHER….NOT THE MOTHER…90% of Achondroplasia is caused by a De Novo mutation

25
Q

What are the 4 disorders associated with TriNucleotide Repeats??

A

1.Fragile X 2. Huntington Disease 3.Freidreich Ataxia 4.Myotonic Dystrophy

26
Q

What is the Nucletoide repeat for Fragile X? Where is it found?

A

CGG….found in the 5’ UTR region

27
Q

What is the nucleotide repeat for Huntington’s Disease? Where is it found?

A

CAG (polyGlu)….on the Exon

28
Q

What is the nucleotide repeat for Freidreich Ataxia? Where is it found?

A

GAA….intron

29
Q

What is the nucleotide repeat for Myotonic Dystrophy? Where is it found?

A

GTG…in the 3’UTR region

30
Q

What is the ONLY Autosomal Recessive disorder that is related to Trinucleotide repeats?

A

Fredreich Ataxia

31
Q

Which disorder has a trinucleotide repeat of CGG in the 5’UTR region?

A

Fragile X

32
Q

Which disorder has a trinucleotide repeat of CAG in the coding region?

A

Huntington’s Disease

33
Q

Which disorder has a trinucleotide repeat of GAA in the intron?

A

Freidreich Ataxia

34
Q

Which disorder has a trinucleotide repeat of GTG in the 3’ UTR region?

A

Myotonic Dystrophy

35
Q

T of F: A De Novo mutation can for Achondroplasia can be passed down by the mother.

A

FALSE. ITS ALWAYS THE FATHER.

36
Q

What 2 methods do we use to diagnose Achondroplasia?

A

1.PCR & 2.Restriction Enzyme Digestion

37
Q

What disease is associated with the most mutable nucleotide in the human genome?

A

Achondroplasia

38
Q

If a Pt showing signs of Fragile X has a PCR done and it does not read, they are more then 100 repeats. Are they intellectually disabled?

A

Not necessarily. 150 repeats is a mutant carrier…200 or more is phenotypic

39
Q

What will happen in a Fragile X MALE that is a mutant carrier, but is not intellectually disabled?

A

PD like symptoms with age

40
Q

What will happen in a Fragile X FEMALE that is a mutant carrier, but is not intellectually disabled?

A

Premature Ovarian Failure (early menopause)

41
Q

What are the three ways Uniparental Disomy can occur? Which is the most rare?

A

1.Trisomy Rescue 2.Monosomy Rescue 3.Gamete Complement…Gamete complement is the most rare…it requires non disjunction in BOTH male and female

42
Q

What chromosomes are the only viable autosomal trisomys?

A

13,18,21 only 21 is long term life

43
Q

What is the only viable monosomy?

A

45X (turner syndrome)

44
Q

What is the term for the mitochondrial DNA being transcribed in one big chunk?

A

Polycistronic

45
Q

What type of product is made with the dominant disorder haplodeficiency?

A

Normal Product, but HALF the amount…no phenotypic result

Genetics (14 decks)

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