Competency 5 Cloning DNA Fingerprinting Karyotypes Genetics Pedigrees Mutations.
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Transcript of Competency 5 Cloning DNA Fingerprinting Karyotypes Genetics Pedigrees Mutations.
Competency 5
CloningDNA Fingerprinting
KaryotypesGenetics
PedigreesMutations
What was Dolly?• Dolly the sheep was successfully cloned in
Britain in 1996 by the scientist “Ian Wilmut” and was put down in February 2003 after developing a lung infection and arthritis.
• Dolly the sheep became the first vertebrate cloned from the cell
of an adult animal.
Was the suspect at the crime scene?
Suspects Profile
Blood sample from crime scene
Victims profile
Stages of DNA Profiling
DNA is negatively charged so it is attracted to the positive end of the gel.
The shorter DNA fragments move faster than the longer fragments.
DNA is separated by size.
Karyotypes
• A pictorial display of metaphase chromosomes from a mitotic cell
• Homologous chromosomes- pairs • Chromosomes pairs 1-22 are called
autosomes• Chromosome pair 23 are called the sex
chromosomes
Trisomy 21 - Down Syndrome
Down Syndrome
• Cause:
Nondisjunction of
chromosome 21
• Three copies of chromosome 21 =
“TRISOMY 21”
Nondisjunction
• Every cell in that baby’s body will have 3 copies of this chromosome instead of 2.
• This condition is called TRISOMY• Trisomy 21 = Individual has 3 copies of
chromosome # 21.
Nondisjunction
• Chromosomes FAIL TO SEPARATE during meiosis
• Meiosis I Nondisjunction• Meiosis II Nondisjunction
Chromosomal Translocation
Material is swapped with another chromosome
Causes: Burkitt’s Lymphoma
(cancer of the lymph nodes, in children)
Chromosomal Inversion
a segment of genes flip end-to-end on the chromosome
Causes: Four-Ring Syndrome
(cleft pallate, club feet, testes don’t descend)
Chromosomal Duplication
A segment of genes is copied twice and added to the chromosome
Causes: Charcot–Marie–Tooth disease
(high arched foot, claw feet, confined to a wheelchair)
Chromosomal Deletion
One or more genes are removed
Causes: Wolf-Hirschhorn syndrome (severe mental retardation)
cri du chat syndrome (mewing sounds, mental retardation)
Gene Mutations: 2 Types
Point Mutation Frameshift Mutation
• Monosomy: The condition in which there is a missing chromosome.
• Trisomy: The condition in which there are 3 of a specific chromosome.
Karyotypes
Disorder: Trisomy:Definition: Cystic Fibrosis #7Mucus accumulate in
the lungsEdward’s Syndrome #18
Down’s Syndrome #21
Patau’s Syndrome #13
Genetic Disorders• PKU: Inability to code for an enzyme needed for
changing the amino acid phenylaline to tyrosine.• Turner’s Syndrome: Sex chromosome make up is
XO. (She/He)• Klinefelter’s Syndrome: Sex chromosome makeup
is XXY (He/She)• Tay-Sachs Disease: Inability to synthesize an
enzyme that prevents lipid buildup in the brain• Sickle Cell Anemia: Blood cells are sickled shaped
Crosses:
1.Monohybrids2.Dihybrids3.Incomplete Dominance4.Co-Dominance5.Multiple Alleles6.Sex linked Traits
What is a pedigree chart?How is it used?
• One important tool a geneticist uses to trace the inheritance of traits is a pedigree chart.
• A pedigree chart is one that geneticists use to track an inherited trait through several generations of a family to try to understand how it is inherited.
How do you read a pedigree chart?
• A CIRCLE represents a FEMALE.
• A SQUARE represents a MALE.
• A horizontal line represents marriage.
• A vertical line and brackets connects
parents to children.
How do you read a pedigree chart?
• A shape that is not shaded indicates that the person does NOT have the trait.
• A shape that is half-shaded indicates that the person is a “carrier” (has 1 allele).
• A shape that is completely-shaded indicates that the person has the trait (homozygous – both alleles for the trait).