Chapter 3 - Genetics Flashcards
genetics
study of..
how traits are inhereted from one generation to the next
basic unit of heredity
gene
genes composed of
genes are located on the
alleles
genes existing in more than one form
genotype
genetic makeup of an individual
phenotype
physical manifestation of genotype
phenotypes can correspond to a single or several of these
genotypes
Gregor Mendel
1860s
basic principles of genetics
garden pea experiments
garden pea experiment
inheritance of individual pea traits by performing genetic crosses
genetic crosses
mendel’s pea experiments
true-breeding individuals with different traits
mated them
statistically analyzed inheretance of traits in progeny
mendel’s first law
law of segregation
mendel’s four postulates of inheritance
(law of segregation)
- genes exist in alternative forms (alleles)
- organism has two alleles for each inherited trait, one from each parent
- two alleles segregate during meiosis —> gametes carry one allele for any given trait
- two alleles in individual are different - only one expressed, other is silent
dominant allele
allele which is expressed
recessive allele
allele which is silent in presence of dominant allele
homozygous
organisms that contain two copies of same allele
homozygous for that trait
heterozygous
organisms that carry two different alleles
Mendel’s law of dominance
dominant allele appears in phenotype
monohybrid cross
(mendel’s first law - law of segregation)
only one trait studied in particular mating
(i.e. color)
Parental or P Generation
(mendelian genetics)
individuals being crossed
filial / F generation
progeny generations
Punnett Square Diagram
(Mendel’s First Law - Law of Segregation)
used to predict genotypes expected from a cross
Testcross
Reasoning
(Mendel’s First Law - Law of Segregation)
genotype can only be predicted from recessive phenotype
dominant phenotype - homozygous or heterozygous
testcross
used to
determine unknown genotype of org with dominant phenotype
test cross
(aka back cross)
definition
organism with dominant phenotype of unknown genotype (Ax) crossed with phenotypically recessive organism (genotype aa)
results of test cross
P: AA x aa
F1: 100% Aa; 100% dominant phenotype
P: Aa x aa
F1: 50% Aa; 50% dominant phenotype
50% aa; 50% recessive phenotype
Mendel’s Second Law
Law of independent assortment
law of independent assortment
(principle)
law of segregation applies as long as genes are on separate chromosomes and assort independently
genes on same chromosomes stay together unless crossing over occurs
law of independent assortment
dihybrid cross
P generation:
purple flower tall pea plant (TTPP)
x
white flowered dwarf pea plant (ttpp)
F1 progeny - TtPp genotype
dominant phenotype
crossing over
(application to law of independent assortment)
crossing over may break linkage of certain pattern
i.e. redheads + freckles; sometimes blondes have freckles
Dihybrid Cross
F1 Generation
F1 Generation self crossed
TtPp x TtPp
4 phenotypes
9:3:3:1
(sorts as it would in monohybrid:
3:1 ratio favor dominant)
Non-Mendelian Inheritance
Complications with Mendelian
Genotype doesn’t translate into phenotype 100%
not 100% of recessive phenotype have 100% recessive genotype
Incomplete Dominance
(complications with mendelian genetics)
phenotype of heterozygote is intermediate of phenotypes of homozygotes
incomplete dominance
example:
snapdragon flowers
P: RR x rr
(red x white)
F1 genotypic ratio: 100% Rr
F1 phenotypic ratio: Rr = pink
F1: Rr x Rr
(pink x pink)
F2 genotypic ratio: 1 RR: 2 Rr: 1 rr
F2 phenotypic ratio: 1 red: 2 pink: 1 white
Codominance
(non-mendelian inheritance)
multiple alleles exist for given gene
more than one is dominant
each dominant allele fully dominant when combined with recessive
two dominant alleles:
phenotype is result of expression by both dominant alleles simultaneously
Codominance
example:
ABO blood groups
Blood type determined by three alleles:
IA, IB, i
only 2/3 allele present in individuals
all alleles present in human population
IA, IB - dominant
i - recessive
IAIA or IAi - blood type A
IBIB or IBi - blood type B
ii - blood type O
IAIB - blood type AB
Sex Determination
(Mendelian genetics)
for every mating event, 50% chance boy, 50% girl
autosomes
non sex chromosomes
22/23 chromosome pairs
sex chromosomes
1/23 pairs
determine sex of organism
females - XX
males XY
gender determination
females produce only X chromosome
male determine gender of zygote - produce X or Y
sex linked chromosomes
genes located on X or Y chromosomes
most sex linked chromosomes carried on the ___ chromosome
X chromosome
Sex Linkage
(Mendelian Genetics)
recessive genes carried on X chromosome will produce recessive phenotype in males
(only one X)
no dominant allele present to mask
recessive phenotype much more common in males
examples of sex linked recessives
hemophilia
color-blindness
sex-linkage inheritance
affected males pass on trait to all daughters (X), no sons (Y)
can be passed from father to grandson via carrier daughter
Drosophila melanogaster
helped provide explanations for mendelian genetic patterns
advantages for genetic research
Advantages of Drosophila melanogaster for genetic research
(5)
- reproduce often (short life cycle)
- reproduce large numbers
- large chromosomes
- few chromosomes (4 pairs; 2n=8
- frequent mutations
analyses of D. melanogaster led to discoveries
(2)
pattners of embryological dev.
how genes expressed in early dev affect adult organism
Environmental Factors
(Mendelian Genetics)
interaction between environment and genotype produces phenotype
Enviornmental factors in genetics and Drosophila
with given set of wings:
crooked wings at low T
straight wings at high T
environmental factors in mendelian genetics in Himalayan hare
same color genes
white on warmer parts of body
black on colder parts of body
(if naturally warm parts cooled with ice, hair will grow black)
Genetic Problems
chromosome number and structure maybe altered by abnornal cell division
- during meiosis
- by mutagenic agents
Nondisjunction
(genetic problems)
failure of homologous chromosomes to sep. properly during
meiosis I
failure of sister chromatids to separate properly during
meiosis II
result of nondisjunction
(genetic problems)
3 copies of a chromosome - trisomy
(somatic cells - 2N + 1)
1 copy of chromosome - monosomy
(somatic cells - 2N - 1)
most monosomies and trisomies result in
spontaneous abortion of embryo early in term
nondisjunction may also occur in sex chromosomes, resulting in
extra or missing copies of X and/or Y
Chromosomal Breakage
(genetic problems)
occur spontaneously
or induced by environmental factors
environmental factors causing chromosomal breakage
X-rays, mutagenic agents
deficiency
(chromosomal breakage - genetic problems)
chromosome that loses fragment
Mutations
definition
(genetic problems)
changes in genetic information of a cell
coded in DNA
Mutations in somatic cells
can lead to tumors
mutations in gametes (sex cells)
transmitted to offspring
most mutations occur in regions of DNA that
do not code for proteins
are silent
silent regions of DNA
not expressed in phenotype
mutations that change the sequence of the amino acids in proteins are most often
recessive
deleterious
Mutagenic Agents
(mutations)
mutagenic agents induce mutations
e.g. cosmic rays
X-rays
UV rays
radioactivity
chemical compounds - colchicine, mustard gas
mutagenic agents are generally
(mutations - genetic problems)
carcinogenic
colchicine
(chemical compound - mutagenic agent)
inhibits spindle formation
causes polyploidy
polyploidy
cells and organisms containing more than two paired (homologous) sets of chromosomes
carcinogenic
any substance directly involved in causing cancer
mutation types
(mutations - genetic problems)
gene
protein
gene mutation
nitrogen bases
added
deleted
subsituted
thus creating different genes
protein mutations
incorrect amino acid inserted in polypeptide chain
mutated protein produced
mutation
definition
genetic error with wrong/no base on DNA at particular position
examples of genetic disorders
phenylketonuria (PKU)
sickle-cell anemia
phenylketonuria (PKU)
definition
autosomal recessive
genetic disorder
molecular disease