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Title: Inheritance Patterns and Human Genetics
Description: For 1st year beginners. As an outline these notes give information on cystic fibrosis, gene mutations, pedigrees, carriers, genetic disorders, types of inheritance, genetic counseling, and gene therapy.
Description: For 1st year beginners. As an outline these notes give information on cystic fibrosis, gene mutations, pedigrees, carriers, genetic disorders, types of inheritance, genetic counseling, and gene therapy.
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Inheritance Patterns and Human Genetics
Chapter Twelve
Why study inheritance and genetics?
● Biologists have discovered many human disorders are genetic, which means they can
be inherited from parent to offspring
● If we know which genes cause particular disorders, maybe we can alter or control these
genes to prevent disorders becoming expressed in our children
...
● Jeff Pinard was diagnosed with cystic fibrosis at a young age after another family
member was diagnosed
...
There are a few categories of gene
mutations:
○ Point Mutation: the substitution, addition, or removal of a single nucleotide in a
single gene on a chromosome
○ Frameshift Mutation: occurs during transcription
Pedigrees
● Geneticists can study human genetic traits and trace genetic diseases by constructing
pedigrees
...
● Pedigrees can help biologists study patterns of inheritance, which is the expression of
genes over generations
...
● This can help geneticists determine if some individuals are carriers of a disease
...
● Therefore, carriers can pass the disease onto offspring
...
Types of Inheritance
● Polygenic Inheritance
○ Polygenic are human characteristics that are influenced by several genes
...
Some genes
produce low amounts of melanin while others produce high amounts, which
leads to varying skin colors
...
● Complex Characters
○ Complex characters are human conditions that are influenced by both
environment and genetics
...
● Multiple Alleles
○ Multiple alleles refers to genes that have three or more alleles
...
Different combinations of these three alleles can lead to different blood types
(A, B, AB, and O)
...
○ For example, a mutation can lead to the inability to remove cholesterol from the
blood
...
● X-Linked Traits
○ Sex-linked traits refer to a trait that is coded by an allele on a sex chromosome
...
○ For example, red-green colorblindness occurs in men and is due to a mutation
of the gene that allows absorption of red and green light by the eye
...
○ For example, baldness is almost always observed in men
...
● Single-Allele Traits
○ Single allele traits are when a single allele of a gene controls a trait
...
Detecting Genetic Disease
● Genetic screening is an examination of a person’s genetic makeup
...
● Many people that have a family history of a disease use a combination of these
processes to determine if they will be passing on a trait to their children
...
● Genetic counselors can advise patients on what type of traits they may pass onto their
children by constructing family pedigrees and karyotypes
...
● Somatic cell gene therapy is when only body cells are altered whereas germ cell gene
therapy is when egg or sperm cells are altered
...
Title: Inheritance Patterns and Human Genetics
Description: For 1st year beginners. As an outline these notes give information on cystic fibrosis, gene mutations, pedigrees, carriers, genetic disorders, types of inheritance, genetic counseling, and gene therapy.
Description: For 1st year beginners. As an outline these notes give information on cystic fibrosis, gene mutations, pedigrees, carriers, genetic disorders, types of inheritance, genetic counseling, and gene therapy.