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AP Biology Chapter 12
Simon Kenton
35
Biology
12th Grade
01/31/2012

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Term
Karyotype
Definition
  • Image of structure and number of chromosomes in an individual.
  • Sorted by length and centromere location
  • Line up from tallest to shortest
Term
Huntingtons Disease
Definition
  • autosomal dominant
  • breakdown of certain areas of the brain
  • onset usually occur between 30-50
Term
Achondroplasia
Definition
  • autosomal dominant
  • abnormally short arms and legs relative to other body parts
Term
Cystic Fibrosis
Definition
  • autosomal recessive
  • fairly common in white americans
  • a defective protein, so thick mucus accumulates in lungs
  • usually don't survive to adulthood
Term
Autosome
Definition

Refers to chromosomes 1-22

They are the same in males and females

Term
Tay-Sachs
Definition
  • autosomal recessive
  • affects central nervous system
  • common in US among Jews
Term
Phenylketonuria (PKU)
Definition
  • autosomal recessive
  • failure of brain to develop in infancy
  • newborns appear normal until they drink milk
  • put on special diet until their brains are fully developed
Term
Sickle Cell Anemia
Definition
  • autosomal recessive
  • common in black americans
  • causes blood cells to become sickle shape and reduces there oxygen carrying capacity
  • also is an example of co-dominance because heterozygotes have normal blood cells and sickle blood cells
Term
Wild Type Allele
Definition
is the most common form of a gene
Term
Mutant Allele
Definition
less common form of a gene
Term
X-linked genes
Definition
Genes that are found on the X (sex) chromosome
Term
Y-linked Genes
Definition
genes that are found on the Y (sex) chromosome
Term
Sex-linked Traits
Definition
traits controlled by genes on sex chromosomes
Term
Males receive their X (sex) chromosome from
Definition
Mom
Term
Red-Green Colorblindness
Definition
  • Sex-linked traits
  • on X chromosome
  • can not distinguish between red and green
Term
Hemophilia
Definition
  • sex-linked recessive trait
  • on X chromosome
  • failure of blood to clot
Term
Muscular Dystrophy
Definition
  • sex-linked recessive trait
  • on the X chromosome
  • wasting away of muscles
Term
Chromosomal Mutations
Definition
Changes in chromosomes during replication
Term
4 Types of Chromosomal Mutations
Definition
  1. Deletion
  2. Duplication
  3. Inversion
  4. Translocation
Term
Deletion
Definition
  • a chromosomal mutation
  • a fragment of a chromosome breaks off
Term
Duplication
Definition
  • a type of chromosomal mutation
  • the chromosome fragment attaches to its homologous chromosome and will have two copies of a gene
Term
Inversion
Definition
  • a type of chromosomal mutation
  • fragment reattaches to the original chromosome in the reverse orientation
Term
Translocation
Definition
  • a type of chromosomal mutation
  • a fragment may join a non homologous chromosome
Term
Aneuploidy
Definition
have 1 extra or 1 less chromosome
Term
Polyploidy
Definition
have 3 or more of each type of chromosome
Term
Nondisjunction
Definition
one or more pairs of chromosomes fail to separate in mitosis or meiosis
Term
Cri du chat Syndrome
Definition
  • deletion from chromosome #5
  • abnormally shaped larynx
  • mental retardation
Term
Down Syndrome
Definition
  • 3 chromosomes on #21
  • due to nondisjunction
  • mental retardation

 

Term
Patau Syndrome
Definition
  • 3 chromosomes on #13
  • due to nondisjunction
  • multiple abnormalities
Term
Edward Syndrome
Definition
  • 3 chromosomes on #18
  • due to nondisjunction
  • multiple abnormalities
Term
Turner Syndrome
Definition
  • XO
  • females
  • sterile
  • shorter, stocky
  • only one X chromosome
Term
Triple X
Definition
  • XXX
  • females
  • usually fertile
  • abnormalities vary

 

Term
Klinefelter Syndrome
Definition
  • XXY
  • males
  • sterile
  • slight breat development
  • underdeveloped genitalia
  • sparse body hair
Term
Jacob Syndrome
Definition
  • XYY
  • males
  • taller than average
  • mild mental impairment
Term

What are the two reasons chromosomal mutations are rarely passed on to the next generation?

Definition
  1. sterile
  2. zygote usually dies
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