mendel
worked w pea plants |
his theory us one of particulate inheritance |
inherited characteristics are carried by genes |
nondisjunction
error in meiosis where homologous chromosomes fail to separate as they should |
one gamete receives two of the same type of chromosome and other receives no copy |
remaining chromosomes may be unaffected and normal |
if either aberrant gamete unites w normal gamete during fertilization, resulting zygote will have abnormal # of chrom |
aneuploidy |
any abnormal number of chromosomes |
trisomy |
if chromosome is present in triplet |
trisomy 21 (Down syndrome) |
extra chromosome 21 |
cancer cells grown in culture almost always have extra chromosomes |
organism in which cells have extra set of chromosomes is triploid (3n) |
4n tetraploid |
strawberries r octoploid |
polyploidy is COMMON in PLANTS |
results in platens of abnormally large size |
in some cases in responsible for evolution of new species |
crossover and linkage mapping
chiasma |
physical bridge around point of exchange |
result of crossover is recombination |
crossover and recombination are major sources of variation in sexually reproducing organisms |
one map unit distance on chromosome is distance within which recombination occurs 1 percent of the time |
crossover/recombination frequency |
recombination frequency |
number of recombinants / total #offspring X 100 |
can find recom frequency fro linked genes this way |
is expressed as a percent |
dihybrid cross
genotype (AaBb x AaBb) |
9:3:3:1 |
linked genes
is OPP to ia |
if height is linked to seed color, genes will not segregate independently |
on SAME chromosome |
genes that are adjacent and close to each other on same chromosome tend to move as unit and do NOT segregate |
genotype for two traits is dihybrid |
humans have 46 chromosomes, so have 46 linkage groups |
mendels second law: law of segregation
during formation of gametes, two traits carried by each parent separate |
are not linked |
ex: monohybrid cross |
trait not identified in either parent appears in F1 generation (recessive when 2 hetero) |
intro
people used to think that inheritance was blended, a mixture of fluids that passed from parents to children |
probability
prob can predict average outcome |
absolute certainty is 1 |
multiply |
prob of two independent events, multiply chance of one by chance of other |
ex: chance of a couple having two boys (1/2 x 1/2) |
add |
more than one arrangement of events producing the specified outcome is possible |
order matters |
ex: couple having children, one boy one girl in either order |
boy and then girl is 1/2 x 1/2 = 1/4 |
girl then boy is 1/4 too |
1/4 + 1/4 = 1/2 |
mendels third law: law of independent assortment
applies when cross is carried out bet two individuals hybrid for two or more traits |
that are NOT on the same chromosome |
dihybrid cross |
ex: height segregates independently from seed color |
only factor that det how these alleles segregate or assort is how homologous pairs line up in metaphase 1 which is random |
mendels first law: law of dominance
only dominant trait shows |
recessive is hidden |
|
|
incomplete dominance
BLENDING |
neither trait is dominant |
genotype is cap letters |
ex: red Japanese flower crossed w white one |
produces pink offspring |
chromosomal abberations
deletion |
fragment lacking a centromere is lost during cell division |
inversion |
chromosomal fragment reattaches to its go chromosome but in reverse orientation |
translocation |
fragment of chromosome becomes attached to a non homologous chrom |
polyploidy |
when cell or organism has extra SETS? of chromosomes |
X inactivation
early in development of the embryo of female mammal, one of the X chromosomes is inactivated in every somatic (body cell) |
embryo |
an unborn or unhatched offspring in the process of development |
inactivation occurs randomly |
results in embryo that is a genetic mosaic (some cells have one X activated, some have other) |
all cells of female mammals are NOT identical |
inactivated chromosome condenses into dark spot of chromatin can be seen at the outer edge of nucleus of all somatic cells in female |
^ Barr body |
ex female calico cats (pg 141) |
another ex of x chrom inactivation is when certain x linked recessive mutation prevents the development of sweat glands |
heterozygous for some does NOT mean carrier |
^ has patches of normal skin and patches of skin lacking sweat glands |
polygenic inheritance
blending of several sep genes that vary along a continuum |
bell shaped curve |
ex: skin color, hair color, height |
epistasis
two separate genes control one trait |
one gene MASKS the expression of the other gene |
the gene that MASKS is epistatic to the gene it masks |
gene interactions
pleiotropy |
ability of one single gene to affect an organism in several or many ways |
ex is autosomal recessive disease cystic fibrosis |
characterized by abnormal thickening of mucus that coats certain cells |
instead of protecting body, thick mucus builds up in pancreas, lungs, digestive tract |
pleiotropic affects: poor absorption of nutrients in the intestine and chronic bronchitis |
multiple alleles
most genes in a pop exist in two allelic forms |
ex tall or short |
multiple alleles is when there are more than two allelic forms of a gene |
4 diff blood groups |
A, B, AB, O |
are set by specific molecules on surface of red blood cells |
3 alleles that det those (ABO) |
A and B are codominant |
IA and IB |
I stands for immunoglobin |
O is recessive |
i |
codominance
BOTH traits show |
ex: MN blood groups in humans |
NOT related to ABO blood groups |
3 diff blood groups (M, N, MN) |
based in distinct molecules located not he surface of the red blood cell |
single gene locus at which two allelic variants are possible |
more to it but won't put here |
incomplete dominance
BLENDING |
neither trait is dominant |
genotype is cap letters |
ex: red Japanese flower crossed w white one |
produces pink offspring |
beyond mendelian inheritance
mendelian laws apply to traits set by a single gene for which there are only two alleles |
now we can do ones w 2 or more genes |
|
|
more exceptions to mendelian inheritance
genomic imprinting |
variation in phenotype depending on whether a trait is inherited from the mother or the father |
occurs in gamete formation |
caused by silencing of a particular allele by methylation of DNA |
zygote expresses only one allele of the imprinted gene |
located on autosomes, not on x chromosome |
extranuclear genes |
located in mitochondria and chloroplasts |
dna in these organelles is small, circular, carries only a small # of genes |
linked to several severe and rare inherited diseases in humans |
since products of mito. genes involved w energy production |
defects (mutations) in these genes cause weakness and deterioration in muscles |
mito. dna is inherited only from mother bc fathers mito. do no not enter egg during fertilization |
genes and the environment
environment can alter the expression of genes |
in fruit flies, vestigial wings can be altered by temp |
when raised in hot environment, can grow wings almost as long as normal wild type wings |
many human diseases have a multifactorial basis |
is an underlying genetic component w a significant environmental influence |
ex: heart disease, diabetes, cancer, alcoholism, schizophrenia, and bipolar disorder |
also development of intelligence is result of interaction of genetic predisposition and the environment or nurture and nature |
penetrance
proportion or percentage of individuals in a group w a given genotype that actually shows the expected phenotype |
ex is breast cancer allele who don't get breast cancer (pg 138) |
sex linkage
46 chromosomes |
44 are autosomes |
2 sex chromosomes |
X and Y |
few genes carried on Y chromosome |
Females XX |
can inherit two copies of the sex linked genes |
can be carrier |
Males (XY) |
only inherit one X linked gene |
recessive sex linked is more common than dominant sex linked |
males suffer w sex linked more than females |
ex for recessive six linked traits |
color blindness, hemophilia, Duchenne muscular dystrophy |
all daughters of affected fathers are carriers |
sons CANNOT inherit sex linked traits from father bc son inherits Y chromosome from him |
son has 50 % chance of inheriting sex linked from carrier mother |
mutations
mutations |
any changes in the genome |
can occur in somatic cells and be responsible for cancer |
or during gametogenesis |
affect future offspring |
radiation and certain chemicals cause mutations |
but when and where is random |
two types: |
gene and chromosomal |
gene mutations |
caused by change in DNA sequence |
some human genetic disorders caused by both types |
gene mutations cannot be seen under a microscope |
chromosomal can |
karyotype show size, number and shape of chromosomes |
can reveal presence of certain abnormalities |
can be used to scan fro chromosomal abnormalities in developing fetuses |
3 conditions that occur from nondisjunction in formation of ovum or sperm |
ADD ACTUAL MUTATIONS ANDDDDDDD LINKAGE MAPPPP |
|