Genes are sections of chromosomes that code for protein
They are represented by letters in a particular sequence and at particular spots (loci) on a homologous pair of chromosomes.
Phenotype
An organism's inherited physical characteristics
Determined by an organisms genotype
Genotype
An organism's genetic makeup
Represented by two letters, each representing an allele on homologous chromosomes
May be represented by a descriptive phrase
Homozygotes
Have two of the same alleles for a gene
May be homozygous dominant or homozygous recessive
Heterozygotes
Have two different alleles for a gene
Homologous chromosomes
Diploid organisms have two sets of chromosomes; 1 inherited from both parents
Chromosomes with the same genes (but possible different alleles) are referred to as homologous chromosomes
Alleles
Alleles represent alternative forms of a particular gene
They have the same position on homologous chromosomes and affect the same trait
Dominant allele
If present, a person will show the encoded phenotype
Represented by a capital letter
Recessive allele
Is masked by a dominant allele
Trait is only shown if an organism has two recessive alleles
Represented by a lower case letter
Codominant alleles
An allele will be expressed regardless of the other allele
Example: A and B alleles will both be expressed to determine blood type
Incomplete dominance
Dominant trait is only fully expressed with two dominant alleles
Recessive trait is only expressed with two recessive alleles
Heterozygotes will have a phenotype halfway between the dominant and recessive traits
MENDEL'S LAWS
Mendel noted that many traits in diploid organisms are determined by 2 genes
One of the factors could be dominant (tall) over the other, which is recessive (short)
The Law of Segregation
Each organism contains 2 genes for each trait and these genes segregate during meiosis
Each gamete (haploid) contains only one gene from each pair
Fertilization gives rise to a new individual (diploid) with 2 genes for each trait
MONOHYBRID CROSSES
Gametes (haploid) contain only one allele per gene due to meiosis
Punnett square
Determine the type of gametes parents can form and place at the sides of a Punnett square
Determine the genotypes of children that can result from random fertilization
Probability
The probability that 2 or more independent events will occur together is the product (multiplication) of their chances occurring separately
If both parent's genotypes are Ww, chance of obtaining either W or w in the gametes is 1/2
The chance of forming a WW = 1/2 x 1/2 = 1/4
The chance of forming a Ww = 1/2 x 1/2 = 1/4
The chance of forming a wW = 1/2 x 1/2 = 1/4
By summing all 3 possibilities, the chance of an offspring with a dominant trait is 3/4, and the chance of an offspring with a recessive trait is 1/4
Testcross
Used to determine is someone with a dominant trait is homozygous dominant or heterozygous
An individual with the dominant phenotype (either homozygous or heterozygous) is crossed with an individual having the recessive phenotype
By examining the offspring ratio, one can determine if the person with the dominant phenotype is homozygous or heterozygous
DIHYBRID CROSSES
Independent assortment of alleles
Each pair of alleles segregates (assorts) independently of the other pairs and that all possible combinations of genes can occur in the gametes
This is due to crossing over in prophase I and random alignment of homologous chromosomes on the equator during anaphase I
Punnet square
Genotypes of parents are represented with 4 letters
There are 2 alleles for each trait
Genotypes of haploid gametes are represented with 2 letters
Gametes will contain one allele for each trait in every possible combination
All possible fertilizations are then calculated
Probability
If a dihybrid (WwSs) reproduces with another dihybrid (heterozygous for 2 traits), 4 possible gametes are formed with 16 possible offspring
Forms a 9:3:3:1 phenotypic ratio
If the monohybrid probability for widow's peak = 3/4 as well as for short fingers, then the dihybrid probability of an individual having both widow's peak and short fingers = 3/4 x 3/4 = 9/16
SINGLE GENE DISORDERS
Autosomal Dominant Genetic Disorders
Caused by a dominant allele on an autosomal (nonsex) chromosome
Few lethal disorders of this type, since the effected persons would die, not passing the allele to the next generation
Huntington Disease
Begins at middle age, so may be passed on to next generation
Offspring has a 50:50 chance of inheriting gene from effected parent
Leads to insanity and death
Autosomal Recessive Genetic Disorders
Caused by recessive alleles on autosomal (non-sex) chromosomes
Child may inherit the disease from two normal heterozygote parents
Heterozygotes are carriers, and serve to pass the alleles to the next generation
Cystic Fibrosis
The most common lethal genetic disease among Caucasians in the United States
Due to the inability of chloride ions unable to pass through cell membrane channel proteins
Without chloride, osmosis does not occur and the mucus becomes thick and viscous which impedes respiration
Tay-Sachs Disease
Most common among Jewish people
Due to a lack of the enzyme hexosaminidase A
This enzyme breaks down glycosphingolipids in lysosomes
Leads to accumulation of lysosomes, which result in neurological disorders
Phenylketonuria
Lack of an enzyme to break down the amino acid phenylalanine
Phenylalanine build up during development results in brain damage and mental retardation
Treatable by limiting dietary intact of phenylalanine
Autosomal Incompletely Dominant Genetic Disorders
Neither allele is dominant over the other; but together, the phenotype is intermediate between the 2
Sickle-cell anemia
The allele is selected for malaria-infested Africa because the malarial parasite cannot survive within RBC with the sickle cell hemoglobin
Homozygous dominants and heterozygotes have normal phenotype
Heterozygotes are protected from malaria
Homozygous recessives have the sickle cell disease
MULTIPLE ALLELES
Within a population, there may be 3 or more alleles that affect a particular trait; however, diploid organisms can have only 2 of those alleles for that trait
ABO Blood Types
Blood types
A = blood type A antigen on surface of RBC
Genotype may be AA or AO
B = type B antigen on RBC
Genotype may be BB or BO
O = no antigens on RBC
Genotype must be OO
AB blood type has alleles A and B
Genotype must be AB
A and B alleles are codominant with each other, but both are dominant over the recessive O allele
SEX LINKED INHERITANCE
Sex chromosomes in humans are the X and Y chromosomes
Females are XX and males are XY
All factors being equal, there is a 50% chance of having a boy or a girl
Females must donate a X chromosome to their eggs, males may donate either the X or Y to their sperm
Genes on the sex chromosome are termed sex linked
Most of the genes are found on the larger X chromosome and are called X-linked genes
Males are more likely to show recessive X-linked traits, since they will only get one allele for that trait
A female can only show recessive X-linked traits if her father showed the trait and her mother was a carrier (or had the trait)