Competency 5 Cloning DNA Fingerprinting Karyotypes Genetics Pedigrees Mutations

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 2 1 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 lungs Edward’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.Monohybrids 2.Dihybrids 3.Incomplete Dominance 4.Co-Dominance 5.Multiple Alleles 6.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).