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Genetics exam 2
| Question | Answer |
|---|---|
| Trait | Any observable property |
| Gene | unit of DNA that controls trait expression |
| Allele | Different forms of a gene |
| Autosome | Any chromosome that is NOT a sex cell |
| Gamete | Sex cell |
| Autosomal Dominance | Dominant trait on autosome |
| Autosomal Recessive | Recessive trait on autosome |
| X-linked dominance | A dominant trait located on the X chromosome |
| X-linked recessive | A recessive trait located on the X chromosome |
| Y-linked Dominance | A dominant trait located on the Y chromosome |
| Y-linked recessive | A recessive trait located on the y chromosome |
| Mitochondrial inheritance | Maternal inheritance that comes from mitochondria |
| Pedigree | Chart to determine patterns of inheritance |
| Example of Autosomal Recessive | Cystic Fibrosis |
| Example of Autosomal dominance | Marfan syndrome |
| Example of X-linked recessive inheritance | Color blindness, Muscular dystrophy |
| What parts of the body are affected by Marfan syndrome? | Affects eyes, skeletal & cardiovascular system- Extended limbs, heart defects |
| What parts of the body are affected by Cystic fibrosis? | Affects Music glands, sweat glands, digestive enzyme glands, cell walls |
| What parts of the body are affected by color blindness? | Photopigment proteins |
| What parts of the body are affected by Muscular dystrophy? | Muscle tissue, Dystrophin bridge |
| What is Duchenne's muscle dystrophy? | The dystrophin bridge is completely absent |
| What is Becker's muscle dystrophy? | The dystrophin bridge is significantly shorter than normal |
| Penetrance | Probability that a phenotype will appear when disease genotype is present |
| Expressivity | The range of how severe a phenotype is expressed |
| Monogenic traits | Single gene traits, only determined by one gene |
| Discontinuous variation | Phenotypes fall into two or more DISTINCT, NON OVERLAPPING groups |
| Continuous variation | Phenotypes distributed between two extremes, huge range of possible outcomes |
| Polygenic traits | Traits determined by two or more genes |
| Multifactorial traits | traits impacted by two or more genes AND one or more environmental factors |
| heritability | Measurement of phenotypic variation |
| Heritability = 1.0 | Genetic factors contribute to phenotypic variation 100% |
| Heritability = 0 | Little to no genetic contribution to phenotypic variation |
| Genetic variance | phenotypic variance of a trait in a population that is based on differences in genes |
| Environmental Variance | Phenotypic variance of a trait in a population that is based on differences in environment |
| Correlation Coefficient | degree of genetic relatedness between two individuals |
| Hemizygous | Only have one copy of an allele due to lack of X chromosomes in males |
| Monozygotic | twins derived from one fertilization (One egg and one sperm) |
| Dizygotic | twins derived from two separate fertilizations) |
| Concordance | Both twins express a trait |
| Karyotype | Chart to determine variations on individual chromosomes |
| Metacentric | Centromere placed in the middle of the chromosome |
| Submetacentric | Centromere is closer to one side of a chromosome |
| Acrocentric | Centromere is placed very close to the end of a chromosome |
| Amniocentesis | Collecting amniotic fluid containing suspended fat cells |
| Chorionic Villus sampling | Collecting cells on placenta through a catheter |
| Cell-free fetal DNA | Collecting non-cellular fetal DNA from mother's blood |
| Phytohemagglutinin | Chemical to stimulate mitosis |
| Colcemid | Chemical that stops mitosis in metaphase |
| G-banding | Stain to see G-bands |
| Q-banding | Stain to see Q-bands |
| R-banding | Stain to see R-bands |
| C-banding | Stain to see C-bands |
| Polyploidy | chromosomal number that represents 2 or more sets of chromosomes in an individual (ex. 3N,4N) |
| Triploidy | Three sets of chromosomes in an individual |
| Tetraploidy | Four sets of chromosomes in an individual |
| Trisomy | A full set of chromosomes with one additional chromosome (2N+1) |
| Dispermy | One egg is fertilized by two sperms |
| Nondisjunction | one or more pairs of homologous chromosomes fail to separate during division |
| nondisjunction forming polyploidy | Failure of ALL homologous chromosomes during meiosis 1 |
| Aneuploidy | Gain or loss of individual chromosomes |
| Monosomy | Full sets of chromosomes with one chromosome missing (2N-1) |
| Klinefelters Syndrome | A male contains an extra X chromosome, resulting in XXY |
| Deletions | loss of a chromosome part |
| Duplications | extra copies of a specific chromosome part |
| Translocations | Transfer of a chromosome part to a different NONHOMOLOGOUS chromosome |
| Inversions | Order of chromosome segment is reversed |
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