A picture of all the chromosomes in a cell arranged in pairs
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Pedigree
A chart or "family tree" that tracks which members of a family have a particular trait
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affected pedigree
is shaded/colored
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Carrier in pedigree
Half-Shade
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Unaffected pedigree
unshaded
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multifactorial
determined by many factors, both genetic and environmental, collectively influence phenotype
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Diabetes, Dementia, High Blood Pressure are types of what disorders
multifactorial disorders
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single gene
change or mutation in one gene
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single gene recessive trait examples
sickle cell and cystic fibrosis
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single gene dominant trati examples
dwarfism and huntington's disease
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sex-linked trait
passed on the sex chromosomes (the X or the Y)
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why do males more affected by sex linked trait diseases?
because women have 2 X chromosomes and only need one to function while men have only 1 X-chromosome
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mitochondrial disorders
Leber's heditatry optic nueropathy
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sex linked trait examples
colorblindness, duchenne muscular dystrophy and hemophilia
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what disorder is only passed from mother to child?
mitochondrial disorders
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chromosomal disorders
not having enough or having extra chromosomes
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what are some examples of chromosomal disorders?
Down Syndrome, Turner's Syndrome, Klinefelter's Syndrome
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how are chromosomal disorders revealed?
karotypes
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what do we use to find out abt diseases?
genetic screening
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Carrier Screening
test that is typically done on adult couples who are considering having children and want to determine if those children could inherit any diseases.
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how is carrier screening done?
blood sample is drawn, DNA is extracted and amplified using PCR, and then DNA goes under testing for diseases.
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Preimplantation Genetic Diagnosis (PGD)
often used by people with known autosomal dominant or sex-linked conditions that they do not want to pass on to their children
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How is PGD done?
eggs are fertilized in a vitro dish and after they are developed, a single cell from each embryo is removed, amplified, and tested for the trait the parents dont want to pass
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Fetal Screening/Prenatal diagnosis is performed when?
when fetuses are inside the mommy
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amniocentesis
needle puncture of the amniotic sac to withdraw amniotic fluid for analysis
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When is amniocentesis performed?
14-20 weeks
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chorionic villus sampling
the examination of cells retrieved from the placenta
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what are risks of getting amniocentesis chorionic villus sampling?
miscarriage
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Newborn screening
the testing of infants shortly after birth
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how do we do newborn screening?
A small sample of blood is taken from the baby, and DNA is isolated from it for testing purposes
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Newborn screening is used for what?
for inherited diseases if the parents choose not to implement measures that complete this testing while the baby is still in utero
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What does PCR stand for
polymerase chain reaction
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What do we use for PCR?
taq polymerse, DNA primers, and DNA nucleotides
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what is the first step of PCR
denaturation
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what is denaturation
high temperature breaks hydrogen bonds that hold the double stranded DNA together.
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Second step of PCR
annealing
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what is annealing
dna primers are added to the dna mixture and dna primers are binding to dna
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why is dna primer present?
so taht the DNA is reading for copying
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what is the 3rd step of PCR
extension
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what is extension?
taq polymerse is used to copy bacterial dna before bacterial cells divide.
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what is genotype
genetic code for traits that we possess
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testing for traits in the lab can be done with what?
gel electrophoresis
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what does centrifugation do?
separates DNA from cell waste
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why are restriction enzymes used for gel electrophoresis for gene testing?
so that different versions of the gene, "bad" or "good", can be distinguished
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what does the end result of gel electrophoresis determine?
reveals the genotype of the individual being tested
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what trimester is critical during pregnancy?
the first
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what is gene therapy?
the transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.
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