Medical Genetics

Question 1

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

Answer 1

Chromosome disorder

Question 2

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

Answer 2

Chromosome disorder

Question 3

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

Answer 3

Single-gene disorder

Question 4

Hemophilia and cystic fibrosis are what kind of genetic disorder?

Answer 4

Single-gene disorder

Question 5

Independent mitochondrial DNA is altered in this genetic disorder?

Answer 5

Mitochondrial disorders

Question 6

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

Answer 6

Mitochondrial disorders

Question 7

How much of the human genome is dispersed repetitive DNA?

Answer 7

45%

Question 8

Long interspersed elements of up to 7000 bp

Answer 8

LINEs

Question 9

Short interspersed elements between 90 and 500 bps

Answer 9

SINEs

Question 10

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

Answer 10

Alu repeats

Question 11

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

Answer 11

Satellite DNA

Question 12

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

Answer 12

Reduction division

Question 13

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

Answer 13

Equational division

Question 14

Chiasmata for formed during what part of cell division?

Answer 14

Prophase I

Question 15

Synapsis occurs during what part of the cell divsion?

Answer 15

Prophase I

Question 16

Two chromosomes in a unit is called what?

Answer 16

Bivalent

Question 17

Four chromatids in a unit is called what?

Answer 17

Tetrad

Question 18

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

Answer 18

Single base mutation

Question 19

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

Answer 19

Splice site mutation

Question 20

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?

Answer 20

Splice site mutation

Question 21

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

Answer 21

Splice site mutation

Question 22

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

Answer 22

Promoter mutation

Question 23

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

Answer 23

Promoter mutation

Question 24

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

Answer 24

Deletion or Insertion mutation

Question 25

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

Answer 25

Frameshift mutation

Question 26

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

Answer 26

Transposon

Question 27

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

Answer 27

Expanded repeat

Question 28

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

Answer 28

Expanded repeat

Question 29

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

Answer 29

Gain of function

Question 30

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

Answer 30

Loss of function

Question 31

Structural mutation of Glutamate 6 to Valine results in this disease

Answer 31

Sickle Cell anemia

Question 32

Thalassemias are a result of what kind of mutation?

Answer 32

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

Question 33

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

Answer 33

Alpha Thalassemia

Question 34

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

Answer 34

Beta Thalassemia

Question 35

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?

Answer 35

Nonionizing radiation

Question 36

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

Answer 36

Large genes

Question 37

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

Answer 37

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

Question 38

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

Answer 38

Hot spots

Question 39

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

Answer 39

NER

Question 40

What is the Hardy-Weinberg equation?

Answer 40

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

Question 41

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

Answer 41

Hardy Weinberg equations

Question 42

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

Answer 42

Genetic drift

Question 43

Intermixing of populations, which introduces new alleles and mutations

Answer 43

Gene flow

Question 44

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

Answer 44

Founder effect

Question 45

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

Answer 45

Autosomal dominant disorder

Question 46

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

Answer 46

Autosomal dominant disorder

Question 47

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

Answer 47

Autosomal recessive disorder

Question 48

Albinism is what kind of inherited disorder?

Answer 48

Autosomal recessive

Question 49

Cystic fibrosis is what kind of inherited disorder?

Answer 49

Autsomal recessive

Question 50

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

Answer 50

Germline mosaicism

Question 51

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

Answer 51

Delayed age of onset

Question 52

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

Answer 52

Reduced penetrance

Question 53

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

Answer 53

Pleiotropy

Question 54

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

Answer 54

Pleiotropy

Question 55

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

Answer 55

Allelic heterogeneity

Question 56

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

Answer 56

Locus heterogeneity

Question 57

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

Answer 57

Genomic imprinting

Question 58

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?

Answer 58

Anticipation

Question 59

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

Answer 59

Consanguinity

Question 60

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

Answer 60

Anticipation