Mendel and the Gene Idea Flashcards
What genetic principles account for the transmission of traits from parents to offspring?
- “Blending” Hypothesis
- “Particulate” Hypothesis of inheritance: the gene idea
the idea that genetic material contributed by two parents mixes in a manner analogous to the way blue and yellow paints blend to make green
Blending hypothesis
Hypothesis which states that parents pass on discrete heritable units, genes
Particulate Hypothesis of Inheritance: The Gene Idea
documented a particulate mechanism of inheritance through his experiments with garden peas
Gregor Mendel
What approach did Mendel use to identify the two laws of inheritance?
scientific approach
How did Mendel discover the basic principles of heredity?
By breeding garden peas in carefully planned experiments
Why did Mendel choose to work with peas?
- Available in many varieties
- Could strictly control which plants mated which
By crossing (mating) two true-breeding varieties of an organism, scientists can study __ __ __
patterns of inheritance
Results: When pollen from white flower fertilizes eggs of purple flower, the first generation hybrids all have ___ flowers
Purple
a heritable feature
character
example of a character
flower color
a variant of a character
trait
example of a trait
purple or white flowers
What characters did Mendel chose to only track?
characters that varied in an “either-or” manner
What did Mendel make sure when starting the experiments?
His varieties were true-breeding
What do you call the process where Mendel mated two contrasting, true-breeding varieties?
Hybridization
The true-breeding parents are called?
P generation
The hybrid offspring of the P generation are called?
F1 generation
What do you call the offspring when F1 individuals self-pollinate?
F2 generation
Law states that hybrid offspring will only inherit the dominant characteristics in the phenotype. The alleles that suppress a trait are recessive traits, whereas the alleles that define a trait are known as dominant traits.
Law of Dominance
The two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
Law of Segregation
What is the first law of inheritance?
Law of Dominance
What is the second law of inheritance?
Law of Segregation
When Mendel crossed the F1 plants, he discovered a ratio of about __ to __, __ to __ flowers, in the F2 generation
3:1, purple:white
Mendel reasoned that in F1 plants, purple flower color was __, and white flower color was __
purple = dominant
white = recessive
Four (4) concepts that make up the Mendel’s model
- Alternative versions of genes
- An organism inherits two alleles, one from each parent, and a genetic locus is represented twice
- If the two alleles at a locus differ, the dominant allele determines the organism’s appearance
- Law of segregation
An organism that is homozygous for a particular gene has a pair of ___ alleles for that gene and exhibits ____
Identical alleles
Exhibits True-breeding
An organism that is heterozygous for a particular gene has a pair of alleles that are ___ for that gene
Different
its physical appearance
phenotype
its genetic makeup
genotype
allows us to determine the genotype of an organism with the dominant phenotype
testcross
How do you testcross?
cross an individual with the dominant phenotype with an individual that is homozygous recessive for a trait
The F1 offspring produced in the testcross were __, __ for one character
monohybrid, heterozygous
How did Mendel derive the law of segregation?
by following a single trait
How did Mendel derive his second law of inheritance?
by following two characters at the same time
Crossing two, true-breeding parents differing in two characters produces __ in the __ generation, __ for both characters
dihybrids; F1; heterozygous
illustrates the inheritance of two characters
dihybrid cross
dihybrid cross produces __ phenotypes in the F2 generation
four
How did Mendel develop the law of independent assortment?
using the information from a dihybrid cross
each pair of alleles segregates independently during gamete formation
Law of Independent Assortment
The physical site or location of a specific gene on a chromosome.
locus
The laws of __ govern Mendelian inheritance
probability
states that the probability that two or more independent events will occur together is the product of their individual probabilities
Multiplication Rule
The probability in a monohybrid cross can be determined using what rule?
Multiplication Rule
states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities
Rule of Addition
The rules of probability can be applied to predict the outcome of crosses involving __ __
multiple characters
equivalent to two or more independent monohybrid crosses occurring simultaneously
dihybrid or other multicharacter cross
each character first is considered separately and then the individual probabilities are multiplied together
Calculating chances for various genotypes from such crosses
Inheritance patters are often more complex than predicted by simple Mendelian genetics
relationship between genotype and phenotype is rarely simple
Inheritance of characters by a single gene may deviate from ____ ____ ____
simple Mendelian patterns
occurs when the phenotypes of the heterozygote and dominant homozygote are identical
Complete Dominance
two dominant alleles affect the phenotype in separate, distinguishable ways
Codominance
Example of codominance
human blood group MN
the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties
Incomplete Dominance
Dominant and recessive alleles do not really __; lead to ____
- do not really “interact”
- lead to synthesis of different proteins that produce a phenotype
Frequency of Dominant Alleles
Dominant alleles are not necessarily more common in populations than recessive alleles
most genes exist in populations in more than two allelic forms
Multiple alleles
The __ __ __ in humans is determined by multiple alleles
ABO blood group
- a gene has multiple phenotypic effects
- the phenomenon of a single gene affecting multiple traits
pleiotropy
a gene at one locus alters the phenotypic expression of a gene at a second locus
epistasis
Example of epistasis
albinism
occurs when one characteristic is controlled by two or more genes
polygenic inheritance
Example of polygenic inheritance
height, skin color, eye color, weight
usually indicates polygenic inheritance
quantitative variation
when the phenotype of a character depends on environment as well as on genotype
Nature and Nurture: The Environmental Impact on Phenotype
is the phenotypic range of a particular genotype that is influenced by the environment
The norm of reaction
are those that are influenced by both genetic and environmental factors
Multifactorial characters
An organism’s phenotype
- physical appearance
- internal anatomy
- physiology
- behavior
- reflects overall genotype and unique environmental history
- family tree that describes the interrelationships of parents and children across generations
- can also be used to make predictions about future offspring
Pedigree
can be traced and described using pedigrees
inheritance patterns of particular traits
Many genetic disorders are inherited in a __ manner
recessive
Recessively inherited disorders show up only in individuals __ for the allele
homozygous
Carriers are __ individuals who carry the recessive allele but are phenotypically normal
heterozygous
caused by a defective gene that makes the body produce abnormally thick and sticky fluid, called mucus
cystic fibrosis
Examples of inherited disorders due to recessive genes
- Cystic fibrosis
- Sickle-cell Disease
a group of conditions in which red blood cells are not shaped as they should be
Sickle-cell Disease
How many African-Americans are affected with sickle-cell disease?
one out of 400
Symptoms of cystic fibrosis
- mucus buildup in some of the internal organs
- abnormal absorption of nutrients in the small intestine
Symptoms of sickle-cell disease
- physical weakness
- pain
- organ damage
- paralysis
- can increase the probability of the appearance of a genetic disease
matings between relatives
matings between relatives are called __ __
consanguineous matings
Some human disorders are due to __ alleles
dominant
Example of inherited disorders due to dominant genes
- Achondroplasia
- Huntington’s disease
form of dwarfism that is lethal when homozygous for the dominant allele
Achondroplasia
degenerative disease of the nervous system
Huntington’s disease
Huntington’s disease has no obvious phenotypic effects until about ____ of age
35-40 years
human diseases have both genetic and environment components
multifactorial disorders
Examples of multifactorial disorders
- heart disease
- cancer
can provide information to prospective parents concerned about a family history for a specific disease
genetic counselors
can identify whether your baby is more or less likely to have certain birth defects, many of which are genetic disorders.
fetal testing
the liquid that bathes the fetus is removed and tested
amniocentesis
sample of the placenta is removed and tested
chorionic villus sampling (CVS)