Genetics

Learning Outcomes:
• Discuss basics of genetics
• Discuss the terms used in genetics
• Explains Mendel’s 1 st , 2 nd , and 3rd law
• Explain the exceptions to Mendel’s law
Mendelian Genetics
Mendelian
Genetics
Basic principles of heredity

Pea plants (1856 to 1863)

Rediscovered by three botanist

Pisum sativum

Seven Characteristics
Mendel’s First
Law: Principle of
Segregation
Pair of alleles of each parent
separate – one allele to offspring
Mendel’s Second
Law: Principle of
Independent
Assortment
Pair of alleles of each parent
separate – one allele to offspring
Mendel’s Third
Law: Principle of
Dominance
Dominant vs Recessive
Genetic
Terminology
Gene - A genetic factor (region of DNA) that helps determine a characteristic
Allele - One of two or more alternate forms of a gene
Locus - Specific place on a chromosome occupied by an allele
Genotype - Set of alleles possessed by an individual organism
Heterozygote - An individual organism possessing two different alleles at a
locus
Homozygote - An individual organism possessing two of the same alleles at a
locus
Phenotype or trait - The appearance or manifestation of a character
Exceptions to
Mendelian Rules
• Lethal alleles
• Incomplete dominance
• Codominance
• Silent alleles
• Epistasis
• Pleiotropy
• Genetic Heterogeneity
• Variable expressivity
• Incomplete Penetrance
• Anticipation
• Germline mosaicism
Non-Mendellian
Lethal Alleles
Must be homozygous
3:1 vs 2:1
Non-Mendellian
Incomplete Dominance
Distortion of the apparent ratios
Non-Mendellian
Codominance
Two or more alleles
Non-Mendellian
Silent Alleles
Distortion of the apparent ratios
Non-Mendellian
Epistasis
Masks the effects of another gene
making the genotype different
Non-Mendellian
Pleiotropy
Mutations in one gene may have
many possible effects
Non-Mendellian
Genetic Heterogeneity
Mutations in more than one gene
Non-Mendellian
Variable Expressivity
Disease manifest itself and have
variable
Non-Mendellian
Incomplete Penetrance
Extreme case of a low level of
expressivity.
Correct genotype but doesn’t
express
Non-Mendellian
Anticipation