Medical Genetics Exams #1 Questions with Correct
Answers
what is personalized medicine? - ✔✔the use of information about a patient's
genotype and other clinical data in order to select a medication, therapy, or
preventative measure that is specifically suited to that patient. caused by DNA
sequencing technologies
many of genetic diseases are the direct result of... - ✔✔a mutation in one gene
what are some genetic diseases that involve multiple genes? - ✔✔diabetes,
asthma, mental illness
the occurrence of mutations in single genes causing genetic diseases often obey...
- ✔✔simple mendelian inheritance patterns
when an individual exhibits a disease, the disorder is (more/less) likely to occur in
genetic relatives than in the general population - ✔✔more
do identical or fraternal twins share genetic diseases more often? - ✔✔identical
twins, also known as monozygotic (MZ) twins as they are formed from the same
sperm and egg
what does concordance refer to? - ✔✔the percentage of twin pairs in which both
twins exhibit the disorder or trait. in identical twins, concordance is 1
disease (does/does not) spread to individuals sharing similar environmental
situations - ✔✔does not
, different populations tend to have (different/same) frequencies of the genetic
disease - ✔✔different
genetic disease tends to develop when? - ✔✔at a characteristic age. many genetic
disorders exhibit a specific age of onset
a correlation is observed between a disease and a... - ✔✔mutant human gene or
a chromosomal alteration
inheritance patterns of human diseases may be determined via... - ✔✔pedigree
analysis
the pattern of inheritance of a human disorder that is caused by a mutation in a
single gene can be deduced by... - ✔✔analyzing human pedigrees. to use this
method, a geneticist must obtain data from large pedigrees with many affected
individuals
what is tay-sachs disease? - ✔✔- affected individuals appear healthy at birth, but
then develop
neurodegenerative symptoms at 4 to 6 months
- cerebral degeneration, blindness and loss of motor function
- TSD patients typically die at 3 or 4 years of age
- TSD is 100 times more frequent in Ashkenazi (eastern Europe) Jewish
populations than in others
- TSD is the result of a mutation in the gene that encodes the enzyme
hexosaminidase A (hexA)
Answers
what is personalized medicine? - ✔✔the use of information about a patient's
genotype and other clinical data in order to select a medication, therapy, or
preventative measure that is specifically suited to that patient. caused by DNA
sequencing technologies
many of genetic diseases are the direct result of... - ✔✔a mutation in one gene
what are some genetic diseases that involve multiple genes? - ✔✔diabetes,
asthma, mental illness
the occurrence of mutations in single genes causing genetic diseases often obey...
- ✔✔simple mendelian inheritance patterns
when an individual exhibits a disease, the disorder is (more/less) likely to occur in
genetic relatives than in the general population - ✔✔more
do identical or fraternal twins share genetic diseases more often? - ✔✔identical
twins, also known as monozygotic (MZ) twins as they are formed from the same
sperm and egg
what does concordance refer to? - ✔✔the percentage of twin pairs in which both
twins exhibit the disorder or trait. in identical twins, concordance is 1
disease (does/does not) spread to individuals sharing similar environmental
situations - ✔✔does not
, different populations tend to have (different/same) frequencies of the genetic
disease - ✔✔different
genetic disease tends to develop when? - ✔✔at a characteristic age. many genetic
disorders exhibit a specific age of onset
a correlation is observed between a disease and a... - ✔✔mutant human gene or
a chromosomal alteration
inheritance patterns of human diseases may be determined via... - ✔✔pedigree
analysis
the pattern of inheritance of a human disorder that is caused by a mutation in a
single gene can be deduced by... - ✔✔analyzing human pedigrees. to use this
method, a geneticist must obtain data from large pedigrees with many affected
individuals
what is tay-sachs disease? - ✔✔- affected individuals appear healthy at birth, but
then develop
neurodegenerative symptoms at 4 to 6 months
- cerebral degeneration, blindness and loss of motor function
- TSD patients typically die at 3 or 4 years of age
- TSD is 100 times more frequent in Ashkenazi (eastern Europe) Jewish
populations than in others
- TSD is the result of a mutation in the gene that encodes the enzyme
hexosaminidase A (hexA)
