Chapter 12 Inheritance patters and Human Genetics Flashcards
Who discovered the Gene responsible for cystic fibrosis
Francis Collins
who studied how CF is inherited
Jeff Pinard
Who experimented with fruit flies
Thomas Hunt Morgan
Sex chromosomes
Contains genes that determine the sex of an individual
Autosomes
Chromosomes that are not directly involved in determining the sex of an individual
Where do sex chromosomes pair
Meiosis 1
SRY
Sex determining Region Y
Sex Linked Trait
Trait refers to a trait that is coded for by and allele in a chromosome
Linked genes
Pairs of genes that are linked because they are found on the same chromosome
Chromosome map
Diagram that shows the linear order of genes on a chromosome
Who made the first chromosome map
Alfred H. Sturtevant
Germ Cell mutations
Mutations that occur in an organisms gametes
Somatic Cell mutations
Mutations that take place in an organisms body cells
Lethal Mutations
Mutations that cause death
Deletion
The loss of a piece of a chromosome due to breakage
Inversion
A chromosomal segment breaks off, flips around backward and reattaches
Translocation
A piece of one chromosome breaks off and reattaches to a non homologous chromosome
Nondisjunction
A chromosome fails to separate from its homologs during meiosis
Point mutation
The substitute, addition or removal of a single nucleotide
Substitution
One nucleotide replaces another
Frameshift mutation
Making all amino acids downstream change
Insertion mutations
one or more nucleotides are added to a gene which can also result in frameshift mutation
Pedigree
A diagram that shows how a trait is inherited over several generations
Carriers
Individuals that have one copy of the recessive allele but do not have the disease
Genetic disorders
Diseases that have a genetic bases
Polygenic
Influenced by several genes
Complex Characters
Characters that are influenced strongly both by the environment and by genes
Multiple alleles
Genes that have three or more alleles
Codominance
both alleles are expressed in the phenotype of a heterozygote
Incomplete dominance
When an individual displays a trait that is intermediate between the two parents
Sex influenced traits
Involved in other complex characters
Huntington’s disease
An autosomal dominant condition characterized by forgetfulness
Amniocentesis
Allows physician to remove baby juice from the amnion
Chorionic villus sampling
The physician takes a sample of chorionic villi cells
Genetic counseling
The process of informing a person or couple about their genetic makeup
Gene Therapy
Replacing the defective gene
