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Biochem Exam 1 > Medical Genetics > Flashcards

Medical Genetics Flashcards

1
Q

Trisomy 21 (down syndrome) is an example of what kind of genetic disorder?

A

Chromosome disorder

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2
Q

Turner syndrome (45X) is what kind of genetic disorder?

A

Chromosome disorder

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3
Q

A single gene is changed from its normal form, usually resulting in dysfunctional protein in this type of genetic disorder

A

Single-gene disorder

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4
Q

Hemophilia and cystic fibrosis are what kind of genetic disorder?

A

Single-gene disorder

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5
Q

Independent mitochondrial DNA is altered in this genetic disorder?

A

Mitochondrial disorders

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6
Q

LHON (Leber hered. optic neuropathy) and MERRF (myoclonic epilepsy with ragged red fibers) are what kind of genetic disorder?

A

Mitochondrial disorders

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7
Q

How much of the human genome is dispersed repetitive DNA?

A

45%

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8
Q

Long interspersed elements of up to 7000 bp

A

LINEs

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9
Q

Short interspersed elements between 90 and 500 bps

A

SINEs

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10
Q

A type of SINE, about 300 bp long that can be excised and inserted into other parts of the genome

A

Alu repeats

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11
Q

tandem repeats clustered in certain locations within the chromosome, makes up about 10% of the human genome

A

Satellite DNA

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12
Q

Meiosis I. Two haploid cells are formed from a diploid cell. Centromeres intact, but homo chromosomes seperate

A

Reduction division

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13
Q

Meiosis II. Each haploid cell is replicated, centromeres divide.

A

Equational division

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14
Q

Chiasmata for formed during what part of cell division?

A

Prophase I

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15
Q

Synapsis occurs during what part of the cell divsion?

A

Prophase I

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16
Q

Two chromosomes in a unit is called what?

A

Bivalent

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17
Q

Four chromatids in a unit is called what?

A

Tetrad

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18
Q

A single nucleotide is replaced by a different one is what kind of mutation?

A

Single base mutation

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19
Q

Change in splice site which results in part of the intron remaining within the mature mRNA is what kind of mutation?

A

Splice site mutation

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20
Q

Change resulting in creation of a donor site in an intron can result in the inclusion of intron sequence in mature mRNA is what kind of mutation?

A

Splice site mutation

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21
Q

Change resulting in creation of a donor site in an intron can result in exon skipping in mature mRNA is what kind of mutation?

A

Splice site mutation

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22
Q

This mutation causes a change in expression, usually by affecting ability of RNA polymerase to bind

A

Promoter mutation

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23
Q

Guillian-Barre syndrome has an extra AT in TATA box, which reduces the expression by 80%, because of this type of mutation?

A

Promoter mutation

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24
Q

Addition or removal of bases from a sequence results in this type of mutation?

A

Deletion or Insertion mutation

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25
Q

Small deletion/insertion of bases causing a change in the reading from (not a multiple of 3)

A

Frameshift mutation

26
Q

Mobile genetic element inserts in or near a gene, altering expression

A

Transposon

27
Q

trinucleotide runs of AA’s that occur in normal range of repeats (lengthens)

A

Expanded repeat

28
Q

Huntington’s disease is due to what kind of mutation?

A

Expanded repeat

29
Q

A protein has a new enhanced specificity or becomes constitutively active after a mutation is called what?

A

Gain of function

30
Q

An active site has mutated causes this result in the binding protein

A

Loss of function

31
Q

Structural mutation of Glutamate 6 to Valine results in this disease

A

Sickle Cell anemia

32
Q

Thalassemias are a result of what kind of mutation?

A

control of expression mutation (not making enough of a globin form)

33
Q

A patient with excess beta-globin, forming B-globin tetramers has what type of Thalassemia?

A

Alpha Thalassemia

34
Q

A patient is diagnosed with alpha-globin tetramers and is suffering from this type of Thalassemia anemia

A

Beta Thalassemia

35
Q

A patient is exposed to low energy particles that shift electrons causing chemical reactions between bases forming pyrimidine dimers. This is due to what kind of radiation?

A

Nonionizing radiation

36
Q

What size of gene is more likely to develop a mutation?

A

Large genes

37
Q

Why is the age of parents a factor in genetic disease passed to offspring?

A

Older parents have more mutations in the germ cells being passed to offspring

38
Q

CpG dimers that are usually methylated act as what in affecting the rate of mutation?

A

Hot spots

39
Q

Xeroderma pigmentosum disorder is a defect in what kind of DNA repair mechanism?

A

NER

40
Q

What is the Hardy-Weinberg equation?

A

p^2 + 2pq + q^2 = 1

41
Q

In a randomly mating population, one would use this equation to estimate the frequency of gene variants

A

Hardy Weinberg equations

42
Q

Isolated populations change with time due to different pressures and random events. This results in populations that are genetically different from other populations

A

Genetic drift

43
Q

Intermixing of populations, which introduces new alleles and mutations

A

Gene flow

44
Q

A small number of individuals start a population, gene frequencies no longer reflect larger populations

A

Founder effect

45
Q

A single gene copy of allele causes phenotype. Usually single affected parent, no skipped generations and 50% of offspring is affected. Very rare, 1 in 1000 people

A

Autosomal dominant disorder

46
Q

Retinoblastoma, Achondroplasia, and Postaxial polydactyly are examples of what kind of inheritance disorder?

A

Autosomal dominant disorder

47
Q

Results from the mating of two carriers. May skip a generation with males and females equally affected.

A

Autosomal recessive disorder

48
Q

Albinism is what kind of inherited disorder?

A

Autosomal recessive

49
Q

Cystic fibrosis is what kind of inherited disorder?

A

Autsomal recessive

50
Q

Mutation occurs during embryonic period that effects germline cells, but not somatic cells. Offspring present in odd proportions and in very unlikely pedigree.

A

Germline mosaicism

51
Q

Huntington’s disease complicate inheritance patters due to what factor?

A

Delayed age of onset

52
Q

Person with disease does not present with complete phenotype, Retinoblastoma is an example of this

A

Reduced penetrance

53
Q

Multiple effects result from one mutation (single gene effects multiple tissues)

A

Pleiotropy

54
Q

Marfan’s Syndrome is an example of what kind of inheritance pattern?

A

Pleiotropy

55
Q

Hemoglobin derived diseases are a result of what kind of inheritance pattern?

A

Allelic heterogeneity

56
Q

Multiple genes effect a single pathway, as in urea cycle defects are what kind of inheritance pattern?

A

Locus heterogeneity

57
Q

Genes expressed only on paternal or maternal transmitted chromosomes show what kind of inheritance pattern?

A

Genomic imprinting

58
Q

Dominant disorders that are more severe in later generations OR age-delayed disorders that present earlier in later generations are an example of what kind of inheritance pattern?

A

Anticipation

59
Q

Mating of related persons resulting in recessive disease is what kind of inheritance pattern?

A

Consanguinity

60
Q

A child presents with Huntington’s chorea. This is due to what type of inheritance pattern?

A

Anticipation

Biochem Exam 1 (10 decks)

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