Genetics Flashcards
wild type vs mutant
Wild-type allele predominates in the natural population, the common one
Mutant alleles are changes from wild-type allele
Mutation can change gene back (revert) to wild-type allele
genotype and phenotype
Genotype = genetic makeup of an organism
Phenotype = the appearance of an organism
Can have same phenotype but a different genotype**
homozygotes and heterzygotes
Humans are diploid (have two copies of each chromosome and each gene) we are diploids meaning we come in pairs! they can be the same as each other or different we can be homo or heterozygous for particular gene
If alleles of a given gene are identical, individual is homozygous (2 of the same alleles)
If alleles of a given gene are different, individual is heterozygous (2 differnet alleles at genetic locus)
Homozygous lines are true-breeding, give rise to identical progeny
what is locus
IT IS A LOCATION**
monohybrid cross
Monohybrid cross = parents are heterozygous for a single gene
mono= one genetic locus capital A, and hybrid because both parents are hetero Aa crossed with Aa
• Example: Aa × Aa
genotype ratio
1: 2:1
1: AA
2: Aa
1: aa
phenotype ratio: 3:1 assuming that big A is completely dominant over little a
dihybrid cross
looking at two different genetic loci, is a dihybrid cross
- Dihybrid cross = parents are heterozygous for two genes
- Example: AaBb × AaBb
to do pend. square 16 cross, each inherited possible gametes from parent number 1 are AB, Ab, aB and ab look on image!
possible gametes from parent number two are the same
square represents all genotypes related to A and B for this organism, in terms of the phenotypes it is possible for the offspring to be dominant for A dominant for B, recessive A dominant for B, domina A recessive b or recessive for both!
so question is if looking at these 16 options how many out of 16 represent dominant of A and dominant for B
generation nomenclature
P = parental generation
F1 = first filial generation
F2 = second filial generation (progeny of F1 intercross)
dominant and recessive alleles
Dominant allele is indicated by capital letters
One copy of a dominant allele is sufficient for phenotype
AA homozygotes and Aa heterozygotes have the same phenotype
Dominant allele masks presence of recessive allele in heterozygote
Recessive allele indicated by lowercase letters
Recessive phenotype only observed in homozygotes (i.e., aa)
genes, alleles and loci
A gene is the unit of biological function
One gene typically produces one protein
Locus is the location of gene on the chromosome
Alleles are variants of a gene
dihybrid cross cont. 2
9:3:3:1
these represent ratio of phenotypes for a dihybrid cross!
if had the question what is the probability that a child will be homozgous recessive have for both traits? parets are heterozygote for both
dihybrid cross 3
(for probablity)
then break it down into different, mnuch smarter when doing problems to break down probability for A then for B
get this 9:3:3:1 when not linked! either on different chromosomes OR very far apart on differnt chromosomes, can conclude there will be a 9:3:3:1 ratio of phenotypes, if observe 9:3:3:1 of phenotype ratios provides evidence that the genes are not linked another way of saying that is they assort indedendently… version allele of A is independent from version of B that gets passed down those are two independent random events
testcross
testcross means organism with dominant phenotype and do not know what its genotype is could be AA or Aa and you want to know which one so cross with homozgous recessive, and then from the results you can see you would be making two possible P squares
Often, one does not know genotype of an organism
Use a test cross to a recessive tester strain
Example: strain has A phenotype, but could be Aa or AA genotype
Test cross to aa strain
If 100% progeny are A phenotype, then parent was AA
If 50% progeny are A phenotype, 50% a phenotype, then parent was Aa
Based on results can figure out if original dominant organism was homoz dominant or heterozygous dominant- results tell you genotype of original dominant organism!!!
backcross
Backcross is crossing progeny to one parent (P × F1)
Repeated backcrossing generates pure inbred lines (e.g., for mice and plants)
Procedure to make a group of homozgous recessive individuals! you keep crossing one of the progeny to one of the parents and take away anything that is not homzogous recessive, keep inbreeding and crossing and crossing until you have pure homozgous recessive
gene linkage
Genes on different chromosomes are unlinked
Genes far apart on same chromosome are unlinked
Genes close together on the same chromosome are linked
Linked tend to be inherited together (do not follow independent assortment)
Linked genes can be separated by a recombination event (crossover)
gene linkage 2
ex. pair heterzgous for A and B and that parent makes gametes, if A and B totally independent of eachother and not linked then what we have been saying before all the different options here are equally likely so you would have 25% of the time the gamete would be AB, 25% ab, …. etc linkage means stays together more than percentage would indicate
parental chromosomes= exactly same combo of A and B,
recombinants= recombination occuring, recombination of alleles A and B found on parental chromosome are different, like aB combination is not found on any parental chromosome
so 50% recominbinant and 50% parental totally chance*
but linkage parentals are greater than 50%**** MEANS LINKAGE
Recombinance <50% MEANS LINKAGE
gene linkage example
this would tell us GENES DEFINTELY LINKED close to each other on chrosome, 10% recombination means the genes are 10 map units or 10 centimorgans apart
what allows recombinatin to occur, crossing over molecular scissors cross btw A and B to allow alleles to swap! closer they are to eachother hte less liekly it is the little scissors will hit right inbetwen them and the less likely you are to have recomibination** chance of them moving togehter way higher, chance of them having a tiny little cut bettween them is less likely can use recombination frequency to estimate how physically close two genes are to each other on chromosome
incomplete dominance
also called blending! when heterzgous also has its own phenotype; big example is the flowers, if you have red AA, pink Aa, white aa; for complete dominance Aa should be red also, but this is a case where heterzgote doesnt have dominant phenotype has a blended phenotype in this case pink is a color blend between red and white*
In incomplete dominance, phenotype of dominant heterozygote ≠ dominant homozygote
Instead, heterozygote has an intermediate phenotype
Example: 4’o clock plants. AA is red, Aa is pink, aa is white
Aa × Aa cross produces F1 with 25% red AA, 50% pink Aa, 25% white aa
Need both A alleles to provide full redness, one A allele is not enough
double crossovers/recombinants
Can have more than one crossover between genes
ABC/abc with one crossover gives Abc, aBC
ABC/abc with two crossovers can give AbC, aBc
When counting RF, double crossovers are counted twice
If double crossovers are only counted once, this will underestimate map distance
Example: if no marker between A and C, can’t distinguish WT and double crossovers
- when try to determine recombination fq know how many recombination events happened, double cross over means cross over and cross back source of error doesn’t look like anything has happened but you the key is it did and so it is an error
codominance
Codominance: no one allele is dominant
Each allele contributes to phenotype
Typically due to production of distinct proteins by different alleles of a gene
ABO blood groups = codominance, Ia Ib codominant, have blood type AB have and express A and B on surface of red blood cells and have it
A allele produces A surface antigen, B allele produces B surface antigen
O allele produces no surface antigen
AA or AO yields only A antigen
AB yields both A and B surface antigens
lethal alleles
Lethal alleles kill organism
Can be dominant or recessive
For a recessive lethal, aa is lethal, so only AA and Aa survive
Recessive lethal has an altered 1:2 genotype ratio, instead of 1:2:1
ex. monohybrid cross Aa and Aa, expect genotype ratio of 1:2:1, lethal allele gives you 1:2 so what we are saying here is that everythign with that genotype dies** examples in nature where something in nature homoxgous recessive phenotype is embryonic letahl an embyro with that genotype will not survive, do not see all boxes on a punnet square only see the other three not the homozgous recessive box* be aware of that as pattern if see homoz recessive indivdiuals totally missing, could be because maybe homozgous recessive genotype is embryonic lethal**
human chromosomal number
Humans have 46 total chromosomes (23 pairs)
22 pairs autosomes
1 pair sex chromosomes
Humans are normally diploid
Aneuploidy = aberration from normal diploid state
we should have 2 copies of each chromosome, 3 copies is=
3 copies of a chromosome = trisomy, 2n+1=47
1 copy of a chromosome = monosomy, 2n-1=45
We normally have 46 chromosome adn 23 pairs in somatic cells (not egg and sperm)
sex determination
In humans, sex is determined genetically by sex chromosomes
XX = female, XY = male
Presence of Y yields maleness
Random assortment of X and Y in gametes gives 50% daughters, 50% sons
x chromosomal inactivation
females have two copies of X chromosome, in any given cell only one Xs expressed other one is turned into really condensed heterochromatic form (condenses chromatin) refered to as barr body also called x inactivation** and it is random so in any one of your skin cells one of you X chromosomes will be randomly inactivated, in the next skin cell the other X may be randomly inactivated should be about 50/50 through our bodies but in every one of our cells only oen of our x chromosomes in inactive
explains why having extra X chromosome in aneuploid individual not serious, can make Barr body out of it; doses of X chromosomes is already unusual**** during replication and cell division x made into bar body (X inactivated chromosome) one of the last chromosomes to replicate takes a while to replicate bar body and take it apart**** has to be decondensed so just takes a second, can’t go into replication quite as easily as other chromosomes not in super crunched state
X chromosomal inactivation 2
Females are XX, but only one X is expressed
One X chromosome is turned OFF in each cell = Barr body
X inactivation is random and leads to mosaics in female (e.g., calico cat)
Explains why sex-chromosome aneuploidy is less severe than autosomal aneuploidy
During normal cell cycle in females, inactivated X chromosome is one of the last to replicate
Y chromosome
Males receive Y chromosome from father
Presence of Y chromosome determines maleness
Y chromosome is tiny and has very few genes
Kleinfelter’s and Turner’s
(talked about this also in reproduction chapter)
XXY = Kleinfelter’s male
XO = Turner’s female
Both Kleinfelter’s and Turner’s individuals are sterile
Both result from nondisjunction of sex chromosomes in meiosis
Instead of carrying X or Y only, sperm will carry XX, XY, or O (nothing)
Instead of carrying X, egg will carry XX or O
Can also get XYY males and XXX females via nondisjunction
x- linked recessive
Tends to affects only males, females are generally carriers
From carrier mother (XAXa), 50% of males affected
From affected mother (XaXa), 100% of males affected
Daughters may be affected if both mother and father have the allele
More males than females are affected! because in a male****
autosomal and x-linked inheritance
Autosomal genes have same inheritance pattern irrespective of sex
X-linked genes show distinct pattern of inheritance
Females get one X from their mother, one X from father
Males get their X from their mother
If males have an X-linked recessive mutation, they will be affected