BSC 170 Exam 4 UPDATED Exam
Questions and CORRECT Answers
difference between genetics and epigenetics - CORRECT ANSWER - genetics refers to
effect caused by DNA sequences; epigenetic effects are caused by chromatin structure
how twin studies are used to determine heritability - CORRECT ANSWER - examine the
frequency of both twins having a condition if one twin does; if condition is entirely genetic, you
would expect 100% correlation between twins; if conditions is mostly genetic but some other
factors you would expect less than 100% but above frequency seen in general population; if no
genetic basis, second twin would be expected to have the same condition at the same frequency
as the general population
what are complex traits - CORRECT ANSWER - caused by genetic and non-genetic
factors
relationship between vaccines and autism including the Wakefield paper and what scientific
studies actually show - CORRECT ANSWER - vaccines do not cause ASD; incorrect
belief based on Lancet paper in 1997 that examined 12 children (paper was later retracted when
it was found that the main author Andres Wakefield has falsified some of the data); Wakefield
had his license to practice medicine revoked; many studies which combine to include over 1.5
million children have found no link between vaccination, vaccination schedule, or vaccine
additives and ASD
definition of Autism Spectrum Disorder - CORRECT ANSWER - neurobehavioral
condition marked by impairments in social interactions, functional communications, and/or
repetitive behaviors manifesting in early childhood; a spectral disorder because it is actually a
large number of slightly different conditions with different manifestations across the behavioral
ranges
differences between ASD and introversion and savantism - CORRECT ANSWER -
introversion is the preference to avoid groups and to prefer time alone; savantism is the
possession of profound mental or intellectual abilities well beyond what is considered normal;
while the two may coexist in one person, they are independent aspects of that person
, approximate frequency of ASD and why it has changed over time - CORRECT
ANSWER - CDC estimates 1 in 65 children in the US have ASD (1 in 42 boys, 1 in 189
girls); improvements in diagnostic tools and support are responsible for shift from undiagnosed
to diagnosed
ASD and chromosomal inversions - CORRECT ANSWER - chromosomes 4 and 7 are hot
spots (10-15%)
ASD and point mutations - CORRECT ANSWER - 120 genes identified but 27 genes
linked to 30% of ASD
ASD and variable repeats - CORRECT ANSWER - significant changes in repeat numbers
linked to 15-20% of ASD; more short tandem repeats, higher chance of ASD (depends on where)
why ASD is more common in boys - CORRECT ANSWER - x-linked (multiple loci on x
chromosome have been identified);
chromatin restructuring (one candidate gene is involved in chromatin restructuring on x
chromosome); females have defenses against ASD (with inverted repeats it takes many more
repeats for ASD to manifest in females than in males)
when changes in brain development causing ASD can be observed - CORRECT
ANSWER - diagnosis: ages 2-5; significant differences in neuro-patterns in fetal brain
between neurotypical and children who developed ASD
risk factors of ASD - CORRECT ANSWER - paternal factors (dad accumulates point
mutations and variable repeats in her germ cells as he ages); maternal factors (inflammation
during pregnancy lupus and serious viral infections have been connected to ASD, anti-depressant
drugs increase risk from 1.0-1.8%)
definition and time of manifestation of Schizophrenia - CORRECT ANSWER - disconnect
between reality and perception and behavior; typically manifests in late teens to early adulthood
Questions and CORRECT Answers
difference between genetics and epigenetics - CORRECT ANSWER - genetics refers to
effect caused by DNA sequences; epigenetic effects are caused by chromatin structure
how twin studies are used to determine heritability - CORRECT ANSWER - examine the
frequency of both twins having a condition if one twin does; if condition is entirely genetic, you
would expect 100% correlation between twins; if conditions is mostly genetic but some other
factors you would expect less than 100% but above frequency seen in general population; if no
genetic basis, second twin would be expected to have the same condition at the same frequency
as the general population
what are complex traits - CORRECT ANSWER - caused by genetic and non-genetic
factors
relationship between vaccines and autism including the Wakefield paper and what scientific
studies actually show - CORRECT ANSWER - vaccines do not cause ASD; incorrect
belief based on Lancet paper in 1997 that examined 12 children (paper was later retracted when
it was found that the main author Andres Wakefield has falsified some of the data); Wakefield
had his license to practice medicine revoked; many studies which combine to include over 1.5
million children have found no link between vaccination, vaccination schedule, or vaccine
additives and ASD
definition of Autism Spectrum Disorder - CORRECT ANSWER - neurobehavioral
condition marked by impairments in social interactions, functional communications, and/or
repetitive behaviors manifesting in early childhood; a spectral disorder because it is actually a
large number of slightly different conditions with different manifestations across the behavioral
ranges
differences between ASD and introversion and savantism - CORRECT ANSWER -
introversion is the preference to avoid groups and to prefer time alone; savantism is the
possession of profound mental or intellectual abilities well beyond what is considered normal;
while the two may coexist in one person, they are independent aspects of that person
, approximate frequency of ASD and why it has changed over time - CORRECT
ANSWER - CDC estimates 1 in 65 children in the US have ASD (1 in 42 boys, 1 in 189
girls); improvements in diagnostic tools and support are responsible for shift from undiagnosed
to diagnosed
ASD and chromosomal inversions - CORRECT ANSWER - chromosomes 4 and 7 are hot
spots (10-15%)
ASD and point mutations - CORRECT ANSWER - 120 genes identified but 27 genes
linked to 30% of ASD
ASD and variable repeats - CORRECT ANSWER - significant changes in repeat numbers
linked to 15-20% of ASD; more short tandem repeats, higher chance of ASD (depends on where)
why ASD is more common in boys - CORRECT ANSWER - x-linked (multiple loci on x
chromosome have been identified);
chromatin restructuring (one candidate gene is involved in chromatin restructuring on x
chromosome); females have defenses against ASD (with inverted repeats it takes many more
repeats for ASD to manifest in females than in males)
when changes in brain development causing ASD can be observed - CORRECT
ANSWER - diagnosis: ages 2-5; significant differences in neuro-patterns in fetal brain
between neurotypical and children who developed ASD
risk factors of ASD - CORRECT ANSWER - paternal factors (dad accumulates point
mutations and variable repeats in her germ cells as he ages); maternal factors (inflammation
during pregnancy lupus and serious viral infections have been connected to ASD, anti-depressant
drugs increase risk from 1.0-1.8%)
definition and time of manifestation of Schizophrenia - CORRECT ANSWER - disconnect
between reality and perception and behavior; typically manifests in late teens to early adulthood
