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11.1 Basic Patterns of Human Inheritance
The inheritance of a trait over several generations can be shown in a pedigree
Pedigrees can help us to track and understand genetic disorders
Genetic Disorders Review:
HH= homozygous dominantHh= heterozygoushh= homozygous recessive
A recessive trait is only expressed if it is homozygous recessive
If an individual is heterozygous for a recessive disorder, they are called a carrier.
Types of Recessive Genetic Disorders:
Cystic Fibrosis Affects the mucus-producing glands,
digestive enzymes, and sweat glands Chloride ions are not absorbed into the
cells of a person with cystic fibrosis but are excreted in sweat
Without sufficient chloride ions in the cells, a thick mucus is secreted
Albinism
Caused by altered genes, resulting in the absence of pigment in the skin and eyes
White hair Very pale skin Pink iris
Tay-Sachs Disease
Caused by the absence of the enzyme responsible for breaking down fatty acids called gangliosides
Gangliosides accumulate in the brain, inflating brain nerve cells and causing mental deterioration.
Dominant Genetic Disorders
You can be either heterozygous or homozygous dominant to inherit a dominant genetic disorder.
Huntington’s diseaseAffects the nervous system Caused by a genetic defect on
chromosome 4– Section of DNA repeats too many times– As the gene is passed down from one
generation to the next, the number of repeats gets larger
– This means that the symptoms develop at younger and younger ages.
Pedigree Symbols
Normal Female Female that expresses the trait Female carrier (half shaded) Normal male Male that expresses the trait Male who is a carrier for the trait
Pedigree Symbols
Roman Numerals (I, II, III, etc.) = Generation number
Arabic numbers (1,2,3, etc) = individuals in a particular generation