Mendelian Genetics (Lec 1 and 2) Flashcards
Father of Modern Genetics
Gregor mendel
Why were garden peas used in Mendel’s experiments? (5)
Monoecious - Can self or cross pollinate
Short Generation time
Many offspring
Easy to care for
Many paired characteristics
Given a cross between two heterozygous parents, what is the genotypic and phenotypic ratio expected from an autosomal dominant trait? Let A and a be the alleles of the gene.
Genotypic - 1:2:1 AA:Aa:aa
Phenotypic - 3:1 A_:aa
Give the Genotypic and Phenotypic ratio of the ff, let A and a be the dominant and recessive allele respectively:
AA x AA
AA x Aa
Aa x aa
AA x aa
aa x aa
AA x AA - G: 1 AA ; P: 1 A_
AA x Aa - G: 1:1 AA:Aa ; P: 1 A_
Aa x aa - G: 1:1 Aa:aa ; P: 1:1 A_:aa
AA x aa - G: 1 Aa ; P: 1 A_
aa x aa - G: 1 aa ; P: 1 aa
What is a test cross? How does it do what it does?
A test cross is used to determine the genotype of an unknown dominant phenotype.
This is done by crossing it with a homozygous recessive phenotype with a known genotype and determining based on mendelian ratios
If a test cross of an unknown Purple flower was crossed with a white flower with genotype pp, what is the genotype of the purple flower if in 423 offspring, 215 were purple and 208 were white? Assume autosomal dominance
The unknown genotype is Pp
Since the ratio is ~50% purple and 50% white
What is the law of segregation?
Alleles for each trait segregate or separate during gamete formation such that there is only one factor from each pair.
Two alleles for one trait seperate; have a 50-50 chance for expression
Given a dihybrid cross of AaBb x AaBb, what are the expected genotypic and phenotypic ratios?
Phenotypic - 9:3:3:1 A_B_:A_bb:aaB_:aabb
Genotypic - 1:2:1:2:4:2:1:2:1
1 YYRR 2 YYRr 1 YYrr 1:2:1
2 YyRR 4 YyRr 2 Yyrr 2:4:2
1 yyRR 2 yyRr 1 yyrr 1:2:1
Tip: For genotypes, you can set it up first as
1:2:1 AA:Aa:aa and 1:2:1 BB:Bb:bb
Then multiply it like a polynomial, FOIL method
1x1 = 1AABB; 1x2 = 2AABb; 1x1 =1AAbb
2x1 = 2AaBB; 2x2 = 2AaBb; 2x1 =2AAbb
1x1 = 1aaBB; 1x2 = 2aaBb; 1x1 =1aabb
What is the Law of Independent Assortment?
Pairs of factors for one trait segregate independently of the factors of other traits
What are the 5 mendelian assumptions?
Each trait has a corresponding pair of factors
Alleles are found in nucleus
One allele (dominant) will always mask the effect of the other (recessive) on the same locus.
Trait from each locus is fully expressed
No mutations have occured
What is Achondroplasia, what causes it?
Dwarfism, autosomal dominant mutation in fibroblast growth factor receptor gene 3 (FGFR3) on 4p16.3
What is Huntington disease and what causes it?
Muscle locking (seizure-like) symptoms due to nerve cell degeneration.
Caused by trinucleotide repeat expansion (CAG) in the Huntingtin (Htt) Gene on 4p16.3
What is cystic fibrosis and what causes it?
Mucous accumulation in airways causing decreased gas exchange
Caused by mutation in CFTR gene found in 7q31.2
Problem Solving Hehe
Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.
Required: Probability of all kids being affected
Solution:
Since it is Hh x Hh, and we are looking the phenotypic ratios are 3:1 Affected:Unaffected, therefore, the answer is
P(4H_) = (3/4)^4 = 81/256 = 0.316
Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.
Required: Probability of all kids being unaffected
Solution:
Since it is Hh x Hh, and we are looking the phenotypic ratios are 3:1 Affected:Unaffected, therefore, the answer is
P(4hh) = (1/4)^4 = 1/256 = 3.906e-3