Alternative choices for a gene (they code for the same gene, but one comes from mom and one comes from dad)
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Dominant alleles \[hide/are hidden by\] a recessive allele
hide
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Recessive alleles \[hide/are hidden by\] a dominant allele
are hidden by
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Homozygous organisms have two of \[the same/different\] alleles for a trait
the same (ex. TT or tt)
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Heterozygous organisms have two of \[the same/different\] alleles for a trait
different (ex. Tt)
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Phenotype
character that is expressed; “way it looks”
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Genotype
genetic makeup; “what genes it has”
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Generations labelled in punnett squares
P1 (parental) = true breeding parents in genetic cross
F1 (filial) = first filial generation, offspring of the P1
F2 (filial) = second filial generation, offspring of the F1
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Mendelian Inheritance
Refers to certain patterns of how traits are passed from parents to offspring. Generally established by Gregor Mendel
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Monohybrid crosses
cross to study only ONE character (ex. Aa x Aa)
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Law of Segregation
Two alleles separate during gamete formation (separation of homologous partners during Anaphase I)
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Dihybrid Cross
Cross to study TWO characters (ex. AaBb x AaBb)
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Law of Independent Assortment
Each pair of alleles segregates (separate) independently in meiosis. Maternal and paternal chromosomes mix up in different combinations during gamete formation (Anaphase I)
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Result of heterozygous cross (ex. AaBb x AaBb)
9:3:3:1 ratio
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For trihybrid crosses or if parents are not heterozygous…
Use multiplication and addition rules to determine ratios and probability of phenotypes
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Possible different gamete combinations
2^n, where n= number of chromosome pairs
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Testcross
Used to determine if an individual with dominant phenotype is heterozygous or homozygous.
Unknown genotype is crossed with homozygous recessive (A_ x aa)
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Non-Mendelian Inheritance 1: Nature vs. Nurture
Environment influences phenotypic expression
(ex. Siamese cats/Himalayan rabbits - darker fur on areas that are cooler. Hydrangea flower color - depends on soil pH)
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Non-Mendelian Inheritance 2: Spectrum of Dominance
Incomplete and co-dominance
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Incomplete dominance
Heterozygote, blended intermediate phenotype (ex. red x white flowers; heterozygotes = pink)
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Co-dominance
Both alleles are expressed at the same time (ex. Roan horse has BOTH white and red hair; AB blood typ)
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Sex-linked Genes
X-linked -carried on X chromosome (ex. color blindness; hemophilia; Duchenne muscular Dystrophy)
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Multiple Allele Trait
More than 2 choices (A, B, O blood alleles produce A, B, O, or AB blood types)
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Polygenic Trait
Trait is determined by more than one gene (ex. skin color, intelligence, eye color)
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Pleiotropy
One gene has multiple phenotypic effects (ex. dwarfism, cystic fibrosis)
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Glycoproteins
On the surface of blood cells, determine blood type
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True/false: It is important for doctors to know a person’s blood when performing a transfusion or transplant.
True
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I^A and I^B are \[recessive/codominant\]
codominant
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ii (type O) is \[recessive/codominant\] to A or B
recessive
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Universal Donor
Type O
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Universal Recipient
Type AB
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Genetic Screening & Counseling
\-Based on Mendelian genetics and probability rules
\-Tests for identifying carriers
\-Fetal testing
\-Newborn screening
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Carrier
Heterozygous individual that doesn’t show trait, but can pass it on to offspring
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Pedigree
Diagram that shows how traits are passed over generations
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In a pedigree…
Female =
Male =
Individual with trait =
Carrier =
Female = circle
Male = square
Individual with trait = filled in
Carrier = half-shaded
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Karyotype
Organizes picture of an individual’s chromosomes
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Karyotypes can show…
Sex: XX = female, XY = male
Some Genetic Disorders: missing/extra chromosomes (Down Syndrome, Turner Syndrome, Klinefelter Syndrome), large translocations/deletions (Fragile X)
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Karyotypes cannot show…
Gene mutations (ex. PKU, sickle cell)
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Amniocentesis
A test that takes a sample of the amniotic fluid by sticking a needle into the abdomen and does biochemcial tests on it. This can’t be done until 14-16 weeks and the whole process can take weeks. There is a risk of miscarriage if you go through this testing.
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Chorionic Villus Sampling (CVS)
A testing during pregnancy that can be done once you are 8-10 weeks pregnant. Suction tube is is inserted through the cervix and biochemical tests/karyotyping can be done on fetal cells immediately. There are faster results than amniocentesis, but there is a greater chance of miscarriage than in amniocentesis