PLTW - MEDICAL INTERVENTIONS FINAL FINAL TEST 2026
QUESTIONS WITH CORRECT ANSWERS GRADED A+
● Single-Gene Disorder. Answer: Mutation in one gene, causes one protein to be made
incorrectly
● Multifactorial Disorder. Answer: Caused by a variety of mutations in several genes and
introns as well as environmental factors. They are often the cause of several chronic
disorders.
● Chromosomal Disorders. Answer: Normal: 44 (22 pairs) autosomal chromosomes and 2 (1
pair) sex chromosomes. Whole/partial missing/extra chromosome Diagnosed with karyotypes
(picture of the chromosomes)
● Mitochondrial Disorders. Answer: Caused by mutations in mitochondrial DNA (not in the
nucleus). Mitochondrial DNA is only passed down by the mother (only one copy of the gene).
Deals with energy and metabolism. It usually affects all cells in the body, but not always.
● Carrier Screening. Answer: Determines genotype of an individual when it cannot be
determined using a pedigree or the phenotype. It is often used by perspective parents to see if
they are carriers for a certain disease present in their families.
● Preimplantation Genetic Diagnosis. Answer: Used following in vitro fertilization. Babies are
tested for genetic defects and only healthy babies are inserted into the mother.
● Amniocentesis. Answer: Done during the second trimester of pregnancy. Takes a sample of
the amniotic fluid for genetic testing (requires use of an ultrasound)
● Chorionic Villi Sampling. Answer: Done during the first trimester of pregnancy. It cannot
detect neural tube defects. Takes a sample of chorionic villi on placenta wall for genetic
testing (requires use of an ultrasound)
● Ultrasounds. Answer: Takes video of baby in womb, can determine fetus' age and sex, as
well as physical defects. It is also used to see the heartbeat and diagnose a pregnancy.
● Newborn Screening. Answer: Newborn babies are tested for a variety of genetic disorders
and defects. Tests vary from state to state.
, ● Duchenne Muscular Distrophy. Answer: Sex-linked recessive disorder, causes body to not
make protein dystrophin, causing muscle weakness.
● Cystic Fibrosis. Answer: Autosomal recessive, Causes problem in CFTR Protein, causing
mucus to clog lungs, persistent cough, and other lung problems.
● Huntington's Disease. Answer: Autosomal dominant, doesn't show symptoms until later in
life. Makes defective protein known as Huntington. It is a degenerative brain disease
characterized by abnormal movements and a severe decline in thinking and reasoning skills.
● Down Syndrome. Answer: Caused by a problem after/during conception (missing
whole/partial chromosome 21). Characterized by small stature, physical defects, and mental
retardation.
● Leber hereditary optic neuropathy. Answer: Mitochondrial disorder creates a defective
enzyme responsible for converting oxygen, fats, and simple sugars to energy. Characterized
by vision loss.
● Alzheimer's Disease. Answer: Early onset is autosomal dominant. Caused by a buildup of
beta-amyloid plaques and neurofibrillary tangles. Characterized by dementia and memory
loss.
● Polymerase Chain Reaction. Answer: Melt: Highest (94) temperature to separate strands
Anneal: Lowest(45) temperature to allow primers to bind Extend: Middle temperature (72) to
allow Taq polymerase to copy DNA Final Extension: 10 minutes of extend to allow all DNA to
copy. Done in a thermocycler
● Genotype. Answer: Genetic code for a gene
● Phenotype. Answer: Expression of gene (Ex. Blue eyes, brown hair)
● How much of their genetic code do all humans share?. Answer: 99.9%
● Single Nucleotide Polymorphisms. Answer: SNPs, Single nucleotide differences in the
human genome that separate each individuals
● What steps should you take for a healthy pregnancy?. Answer: 300 extra calories per day,
no under-cooked or unpasteurized foods, take prenatal vitamins, non-strenuous exercise, get
plenty of sleep, no hot tubs or saunas, no alcohol, no smoking, no drugs, no caffeine, limit
exposure to chemicals, take care of emotional health
● 12 week fetus. Answer: sex determinable, heartbeat, arms proportional, more movement
QUESTIONS WITH CORRECT ANSWERS GRADED A+
● Single-Gene Disorder. Answer: Mutation in one gene, causes one protein to be made
incorrectly
● Multifactorial Disorder. Answer: Caused by a variety of mutations in several genes and
introns as well as environmental factors. They are often the cause of several chronic
disorders.
● Chromosomal Disorders. Answer: Normal: 44 (22 pairs) autosomal chromosomes and 2 (1
pair) sex chromosomes. Whole/partial missing/extra chromosome Diagnosed with karyotypes
(picture of the chromosomes)
● Mitochondrial Disorders. Answer: Caused by mutations in mitochondrial DNA (not in the
nucleus). Mitochondrial DNA is only passed down by the mother (only one copy of the gene).
Deals with energy and metabolism. It usually affects all cells in the body, but not always.
● Carrier Screening. Answer: Determines genotype of an individual when it cannot be
determined using a pedigree or the phenotype. It is often used by perspective parents to see if
they are carriers for a certain disease present in their families.
● Preimplantation Genetic Diagnosis. Answer: Used following in vitro fertilization. Babies are
tested for genetic defects and only healthy babies are inserted into the mother.
● Amniocentesis. Answer: Done during the second trimester of pregnancy. Takes a sample of
the amniotic fluid for genetic testing (requires use of an ultrasound)
● Chorionic Villi Sampling. Answer: Done during the first trimester of pregnancy. It cannot
detect neural tube defects. Takes a sample of chorionic villi on placenta wall for genetic
testing (requires use of an ultrasound)
● Ultrasounds. Answer: Takes video of baby in womb, can determine fetus' age and sex, as
well as physical defects. It is also used to see the heartbeat and diagnose a pregnancy.
● Newborn Screening. Answer: Newborn babies are tested for a variety of genetic disorders
and defects. Tests vary from state to state.
, ● Duchenne Muscular Distrophy. Answer: Sex-linked recessive disorder, causes body to not
make protein dystrophin, causing muscle weakness.
● Cystic Fibrosis. Answer: Autosomal recessive, Causes problem in CFTR Protein, causing
mucus to clog lungs, persistent cough, and other lung problems.
● Huntington's Disease. Answer: Autosomal dominant, doesn't show symptoms until later in
life. Makes defective protein known as Huntington. It is a degenerative brain disease
characterized by abnormal movements and a severe decline in thinking and reasoning skills.
● Down Syndrome. Answer: Caused by a problem after/during conception (missing
whole/partial chromosome 21). Characterized by small stature, physical defects, and mental
retardation.
● Leber hereditary optic neuropathy. Answer: Mitochondrial disorder creates a defective
enzyme responsible for converting oxygen, fats, and simple sugars to energy. Characterized
by vision loss.
● Alzheimer's Disease. Answer: Early onset is autosomal dominant. Caused by a buildup of
beta-amyloid plaques and neurofibrillary tangles. Characterized by dementia and memory
loss.
● Polymerase Chain Reaction. Answer: Melt: Highest (94) temperature to separate strands
Anneal: Lowest(45) temperature to allow primers to bind Extend: Middle temperature (72) to
allow Taq polymerase to copy DNA Final Extension: 10 minutes of extend to allow all DNA to
copy. Done in a thermocycler
● Genotype. Answer: Genetic code for a gene
● Phenotype. Answer: Expression of gene (Ex. Blue eyes, brown hair)
● How much of their genetic code do all humans share?. Answer: 99.9%
● Single Nucleotide Polymorphisms. Answer: SNPs, Single nucleotide differences in the
human genome that separate each individuals
● What steps should you take for a healthy pregnancy?. Answer: 300 extra calories per day,
no under-cooked or unpasteurized foods, take prenatal vitamins, non-strenuous exercise, get
plenty of sleep, no hot tubs or saunas, no alcohol, no smoking, no drugs, no caffeine, limit
exposure to chemicals, take care of emotional health
● 12 week fetus. Answer: sex determinable, heartbeat, arms proportional, more movement
