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Mutations, More Genetic Crosses & Pedigrees

AB
SuttonThe scientist who answered the question of where genes are located by forming the chromosome theory of heredity
Chromosome Theory of Hereditysays that genes are located on chromosomes and that genes occupy a specific place on the chromosome
Morganthe scientist that gave us the earliest example of linked genes
linked genesgenes located on the same chromosome
linkage groupall of the genes on a chromosome that are inherited together
Sturtevantthe scientist that developed a method of determining the location of genes on a chromosome or gene mapping
gene mappingbased on the assumption that genes located close together on a chromosome would have a lower frequency of crossing over that those located further apart on the chromosome
Stevensthe scientist that discovered sex chromosomes
Mutationany change in the "genetic material" can be harmful, harmless or undetectable, or beneficial
germ mutationmutations that occur in the sex cells
somatic mutationsmutations that occur in body cells
gene mutationsmutations that affect individual genes
chromosomal mutationsmutations that can affect segments of chromosomes, whole chromosomes or sets of chromosomes
deletiontype of mutation that results when part of a chromosome is missing
duplicationmutation that occurs when a portion of a chromosome is repeated
inversiontype of mutation in which the genes on a chromosome become oriented in the reverse of their usual direction
translocationcrossing over of nonhomologous chromosomes
nondisjunctiontype of mutation that occurs when homologous chromosomes fail to separate normally during meiosis
polyploidyoccurs when all of the homologous chromosomes in a cell fail to separate normally during meiosis; causes 3N and 4N cell to be formed in plants
point mutationtype of mutation that occurs when there is a change in a nucleotide of a gene; this may change one amino acid in the polypeptide
frameshift mutationtype of mutation that occurs when a nucleotide is added or removed from the gene; can change every amino acid in the polypeptide after the insertion or deletion of the nucleotide
sex-linked traittraits whose genes are located on sex chromosomes
sex chromosomesthe pair of chromosomes in a cell that determine the gender of the organism; the chromosomes that are not the same in males and females
autosomeall of the chromosomes in a cell except for the sex chromosomes
codominanceoccurs when both alleles for a trait are expressed at the same time
female sex chromosomesXX
male sex chromosomesXY
Huntingtona disease determined by an autosomal dominant gene; appears around the age of 40, symptoms include a deteriation of the nervous system that results in loss of motor control, mental functioning then death
Sex linked traits that are resessivecolorblindness, hemophilia, and musclular dystrophy
Disorders caused by nondisjunctionDown, Turner, and Klinefelter
Down syndrometrisomy 21; an individual that has three 21st chromosomes
Turner syndrome45 X0; individuals with only one X sex chromosome
Klinefelter syndrome47 XXY; individuals with an extra X sex chromosome
amniocentesisa process used to determine if a chromosome mutation has occured in a fetus; amniotic fluid is removed which contain cells from the developing fetus, a karyotype is made from the cells and analyzed
chorionic villus samplinga process used to determine if a chromosome mutation has occured; cells are removed from the membrane surrounding the fetus and analyzed
karyotypea display of all of the chromosome in a cell
sickle cell anemiaa disease that causes the red blood cells of the individual to look like a quarter moon shape.
AAthe genotype of a person with normal hemoglobin
ASthe genotype of a person who is resistant to malaria; have some normal red blood cell and some that are quarter moon shape
SSthe genotype of a sickle cell sufferer
multiple allelea trait has one gene but has three or more alleles; Ex. ABO blood types and Rh blood types
polygenica trait that is controlled by many genes Ex. hair color, height, weight, and skin color
genotype(s) for blood type AIAi and IAIA
genotype(s) for blood type BIBi and IBIB
genotype(s) for blood type Oii
genotype(s) for blood type ABIAIB
A+blood type that has a antigens and Rh antigens
O-universal donor; blood type with no blood antigens on the surface of the red blood cell
AB+universal recipient; an individual with this blood type can receive all the blood types because they do not produce antibodies agaist blood antigens
antigensproteins found on the surface of a cell
antibodiesspecial proteins produced by the immune system to fight foreign cells
Rh+the term used to describe an individual that has the Rh antigen on the surface of the red blood cell
Rh-the term used to describe an individual that does not have Rh antigens on the surface of the red blood cell
genotype for Rh+ individualsRh+Rh- and Rh+Rh+
genotype for Rh- individualsRh-Rh-
PedigreeA visual representation of a disease or disorder through many generations of a family
Hemophiliaknown as the "bleeder's disease"

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