Week 11 - GenBio1 GENETICS 1st Term SY 2021-2022

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General Biology 1

GENETICS
Week 11 / November 8, 2021 / Lecture Notes
Introduction Punnett Square (Reginald Punnett) – shows
Gregor Mendel – discovered basic principles of possible combinations of sperm and egg
heredity by breeding garden pees (identified 2 laws Capital Letter – dominant; Lowercase – recessive
of inheritance through scientific approach) Genetic Vocabulary
Why Pea Plant – fast to reproduce, many Homozygote – 2 identical alleles for a gene [PP],
observable characteristics (either 2 traits), many true-breeding
offspring = many evidences, controlled mating Heterozygote – 2 different alleles for a gene [Pp],
(self/cross polli) not true-breeding
Character – heritable feature, varies among Phenotype – physical appearance [purple/white]
individuals [flower color] Genotype – genetic makeup [homo recessive]
Trait – each variant of character [purple/white] Testcross – to determine genotype
Hybridization – mating 2 contrasting true-breading *breeding mystery individual with homozygous
varieties (homozygous) recessive > display recessive phenotype > then the
P Generation – true-breeding parents mystery parent must be heterozygous*
F1 Generation – hybrid offspring of P generation Law of Independent Assortment
F2 Generation – F1 individuals self/cross pollinate Law of Independent Assortment – each allele
with other F1 hybrids segregates independently in crossing 2 characters
Law of Segregation *only applies to different nonhomologous
Law of Segregation – single character chromosomes/far apart on same chromosome*
Blending Hypothesis (1800) – explanation of *genes located near each other on same
heredity, cross 2 different traits = new trait chromosome tend to be inherited together*
(debunked by Mendel), theory is WRONG Monohybrid – heterozygous for 1 character
Particulate Inheritance – return of parental Monohybrid Cross – between
phenotypes, theory is RIGHT heterozygotes
Dominant Trait – manifested in the observable Dihybrid – heterozygous for both characters
trait Dihybrid Cross – between F1 dihybrids
Recessive Trait – not manifested, stored trait (determine whether 2 characters are
Gene – heritable factor transmitted as a unit or independently)
Mendel’s Model *cross 2 homozygote parent = F1 heterozygous*
1. Alternative gene version account for variation in Extended Mendelian Genetics for a Single Gene
inherited character (2 versions in pea plants)  Alleles are not completely
Allele – alternative versions of genes, resides as dominant/recessive
specific locus on specific chromosome  Gene has more than 2 alleles
2. For each character, organism inherits 2 alleles (1  Gene produces multiple phenotypes
from each parent) Degrees of Dominance
3. If 2 alleles differ at a locus, the dominant allele Complete Dominance – phenotype of heterozygote
determines appearance, recessive allele no effect and dominant homozygote are identical
4. Law of Segregation – 2 alleles Incomplete Dominance – phenotype of F1 hybrids
separate/segregate during gamete formation (end up is between phenotypes of 2 parental varieties
in different gametes), egg/sperm gets only 1 of 2 Codominance – 2 dominant alleles affect
alleles present, segregation corresponds to phenotype in distinguishable ways [Dalmatians]
distribution of homologous chromosomes to diff Multiple Alleles
gametes in meiosis Multiple Alleles – genes exist in more than 2 allelic
form [blood type]

Jan Pauline B. Babina, 11 – STEM 01


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General Biology 1
GENETICS
Week 11 / November 8, 2021 / Lecture Notes
Pleiotropy – multiple phenotypic effects [1 allele = transport in plasma membrane > buildup of
cystic fibrosis and sickle-cell disease] chloride ions outside cell
Extending Mendelian Genetics: 2 or More Genes 3. Sickle-Cell Disease – African-American
Epistasis – 1 gene affects phenotype of another disease, substitution of single amino acid in
(due to interaction of their gene products), gene hemoglobin protein in RBC (all hemoglobin
expression at 1 locus alters phenotype at 2nd locus is abnormal in homozygous)
[pigment color and color/no color] Dominantly Inherited Disorders
Polygenic Inheritance – multiple genes Dominant Disorders – rare and arise from
independently affect a single trait, additive effect of mutation, only show up in homozygous dominant or
2 or more genes on single phenotype [height - 180 heterozygous (PP or Pp), no carrier
genes affect height, skin pigmentation] Normal – no dominant trait (pp)
Quantitative Characters – vary in 1. Achondroplasia – dwarfism caused by a
population among continuum rare dominant allele
Nature and Nurture: Environmental Impact 2. Huntington’s Disease – degenerative
 Phenotype for a character depends on disease of nervous system, no obvious
environment, as well as genotype phenotypic effects until 35-40 years old
Phenotypic Range – broadest for polygenic characs *once deterioration of nervous system begins,
Multifactorial – traits that depend on multiple condition is irreversible and fatal/deadly*
genes combined with environmental influences Multifactorial Disorders – genetic and
Phenotype – physical appearance, internal environmental components, lifestyle has
anatomy, physiology, behavior, reflects overall tremendous effect on phenotype no matter what our
genotype and unique environmental history genotype is [heart disease, cancer, alcoholism,
Mendelian Patterns of Inheritance mental illnesses]
Human Genetics – analyze results of human Types of Testcross Products
matings that have already occurred Genotype – genetic component [2 heterozygous, 2
Pedigree – family tree, describes inheritance of a homozygous dominant, 2 homozygous recessive]
trait across generations Genotypic Ratio – ratio of genotype [1:1, 100% if
Recessively Inherited Disorders all is the same because there is no 4:0]
Recessive Disorders – show up in individuals Phenotype – appearance/description [2 tall, 2 short]
homozygous for the allele (mostly are born to Phenotypic Ratio – ratio of phenotype [1:1, 100%
carrier parents), only show up in homozygous if all is the same because there is no 4:0]
recessive (pp) Probability – percentage [50% heterozygous, 50%
Carriers – heterozygous who carry recessive allele, homozygous dominant]
phenotypically normal (Pp) Identifying Monohybrid
Normal – no recessive trait (PP)  Cross 2 parents using monohybrid cross (F1)
1. Albinism – lack of pigmentation in skin/hair Identifying Dihybrid
*if recessive allele that causes disease is rare, it is  Cross 2 parents first using dihybrid cross
unlikely that 2 carriers will meet and mate* (distribute each traits) (F1)
Consanguineous Matings – between relatives,  Cross the F1 dihybrids using dihybrid cross
increase chance that both parents carry same rare *if parents are both homozygous dominant and
allele recessive, 100% chance of heterozygous*
2. Cystic Fibrosis – most common lethal *if parents are both heterozygous, 100% chance
disease in US, defective/absent chloride that genotypic and phenotypic ratio is the same
(9:3:3:1)*

Jan Pauline B. Babina, 11 – STEM 01


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