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Genetics . Chapter 9 – Patterns of Inheritance. I. A Historic Overview. Primitive civilizations -- domestication of plants and animals, important demonstration of early genetic engineering, lead to agricultural development
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Genetics Chapter 9 – Patterns of Inheritance
I. A Historic Overview • Primitive civilizations -- domestication of plants and animals, important demonstration of early genetic engineering, lead to agricultural development • Gregor Mendel -- laid down the foundation for the field of genetics (early 1800s) (http://science.discovery.com/videos/100-greatest-discoveries-shorts-genetics.html ) • Morgan (1900s) – used fruit flies to identify chromosomes as region of cell where genes are stored in the cell
Modern Genetics • Populations Genetics - Evolution • Oncology, oncogenes and Cancer • Genetic Disease and Gene Therapy • Recombinant Technology (e.g., crop resistance, animal breeding, etc...) http://www.youtube.com/watch?v=YXPnQvcqHkg • DNA Fingerprinting
II. Mendelian Inheritance and Key Terms • Genetics – the study of inheritance (the transmission of traits from one generation to the next) • Mendel’s Experiments: • He performed controlled breading experiments • Pea plants have distinct characteristics that are passed on from one generation to the next in determined mathematical ratios • Traits: (see picture)
He experimented on peas with monohybrid crosses (following the inheritance of one single trait when two heterozygous parents are crossed).
Mendel’s contributions • Different morphological traits come in two's (e.g., smooth or wrinkled seed), must be 2 particles inside the cell that determine the morphological trait, (Today we know theses are alleles = alternative forms of a gene) • Relationships exist between alleles, most common is dominance (an allele that is more powerful than the other allele of the same gene). Recessive alleles are masked by the dominant ones • Law of segregation - alleles segregate on gametes (today we know – because the gametes are haploid, they carry only one copy of each gene) • Law of independent assortment – during gamete formation (meiosis), alleles of DIFFERENT traits are arranged independently from one another
Solving monohybrid problems with dominant and recessive inheritance
Solving dihybrid cross problems (crossing two traits at a time where the parents are heterozygous to both traits)
III. How Can We Study Human Genetics? • To study human inheritance, human pedigrees are used – a chart to follow a certain trait over several human generations.
You must be able to determine the type of inheritance by using human pedigrees
IV. Examples of Human Traits Controlled by a Single Gene • Recessive disorders: • Albinism – lack of pigment in skin, hair and eyes • Cystic fibrosis – excess mucus in lungs, digestive tract and liver • Tay-Sach’s disease • Sickle-cell disease – sickled blood cells, damage to many tissues (Pamela’s story: http://www.nhs.uk/Conditions/Sickle-cell-anaemia/Pages/Introduction.aspx The disease: http://www.youtube.com/watch?v=9UpwV1tdxcs ) • Dominant disorders: • One type of Alzheimer’s disease – mental deterioration • Huntington’s disease – mental deteioration, uncontrollable movements
V. Variations to Mendel’s Laws • More often the inheritance patterns are more complex than simple dominant and recessive inheritance. • Incomplete dominance – a form of intermediate inheritance in which one allele for a specific trait is not completely dominant over the other allele. This results in a combined phenotype. (ex.: red and white snapdragons will have pink flowered offspring)
Codominance – It occurs when both of the contributions of both alleles are visible and do not over power each other in the phenotype (ex.: A and B blood groups) • Pleiotropy -- occurs when a single gene influences multiple phenotypic traits (ex. Sickle cell disease)
Polygenic inheritance – A simple phenotypic characteristic is inherited by the interaction of at least two genes. (Ex. Skin color in humans) • The frequency of the traits with polygenic inheritance follow the shape of a bell curve.
Many characteristics result from the combination of heredity and environment (skin color, weight, height)
VI. Chromosome Theory of Inheritance • Genes occupy specific loci on chromosomes and it is the chromosomes that undergo segregation and independent assortment during meiosis. • Because of the chromosomal theory, if genes are located on the same chromosome, they are inherited together and not independently from one another – linked genes
Chromosomes that are responsible for the determination of the gender – sex chromosomes • In humans and most mammals XX determines a female and XY determines a male. • In other organisms there may be a different system of sex chromosomes.
VII. Sex Linkage • Genes that are located on either the X or Y chromosomes are sex linked • These genes are inherited differently in males and females because the X and Y chromosomes do not carry the same genes. • Genetic disorders that have genes on the X chromosome show up more frequently in males than females. While Y-linked disorders only show up in males. • Males get their X chromosome from their mother.
You must be able to solve genetic problems with sex-linked inheritance in traditional genetic problems and in pedigrees.