Genetics Study Guide Chapter 3 & 4:

A. Mendel’s 4 postulates
• 1. Alleles:
-there are 2 fms. of a gene, dominant & recessive; dom. will hides
recessive and recessive will only express itself if paired w/another
recessive
• 2. Law of Segregation:
-members of each pair of alleles separate when gametes are formed. A gamete
will receive one allele or the other
-genotype: TT/ Tt, these are the 2 alleles one has for specific gene
-phenotype: the appearance of the trait (ex: tongue rolling)
• 3. Homozygous vs. Heterozygous
-homozygous: if a person has 2 alleles that are alike (TT or tt)
-heterozygous: 2 alleles that differ (Tt)
-homozygous dominant: TT
-homozygous recessive: tt
-monohybrid cross: looks at one contrasting trait, mate 2 individuals
(parents=P); first look at the first offspring generation (F1), self cross w/ this
would be F2; ratios will be 1:2:1 genotypic ratio and 3:1 phenotypic ratio
-test cross: don’t know the genotype so cross it w/ homozygous
recessive individual to find out
-dihybrid cross: RrYy X RrYy, ratio of 9:3:3:1
• 4. Law of Independent Assortment:
-alleles for different traits are distributed to sex sells and offspring
independently of one another

B. Vocab. Chapter 3 & 4

1. gene interaction- a situation in which a single phenotype is affected by more than 1 gene
2. X-linkage- cases where genes are present only on the X-chromosome
3. wild-type allele- alternative forms of the gene in organisms where this allele occurs most
frequently; usually dominant
4. incomplete dominance-(partial dominance) a cross between 2 alleles produces an
intermediate result (ex: when red flowers cross w/white flowers = pink) ratio is 1:2:1
5. Tay Sachs disease- human biochemical disorder where homozygous recess. individs.
severely affected w/ fatal lipid-storage disorder causing babies to die
6. hexosaminidase- involved in lipid metabolism, in Tay Sachs there is no activity in this
7. codominance- joint expression of 2 alleles in heterozygote (ex: MN blood group in ppl.)
8. ABO Blood groups-simplest case of multiple alleles 3 alternative alleles of 1 gene exits
9. isoagglutinogen- the “I” in blood groups, also an antigen
10. H substance- something nearly everyone has where terminal sugars are added
11. secretor locus- expression of the ABO blood type system is affected by this; are the
antigens present in secretions (blood, saliva)?
12. Rh antigens- another set of antigens illustrates multiple allelism; involved in
erythroblastosis fetalis, form of anemia
13. recessive lethal allele- mutations resulting in a gene product that is nonfunctional can
sometimes be tolerated in the heterozygous state; one wild type might produce
enough of the essential product for the organism to survive. If it behaves
recessively, the organism will not survive if it is homozygous recessive
14. dominant lethal allele- in instances where 1 copy of the wild-type gene is not sufficient
for normal development, even the heterozygote will not survive (ex:
Huntington’s disease)
15. epigenesis- a situation (such as development of the insect eye which is exceedingly
complex and leads to a structure w/multiple phenotypic manifestations) where
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 each succeeding step of development increases complexity of the sensory
organ and is under ctrl. & influence of many genes
16. epistatic- when the homozygous presence of a recessive allele may prevent/ override
the expression of other alleles at a second locus; when studying the
characteristic a ratio expressed in 16 parts (3:6:3:4) suggests epistasis
recessive: occurs when the homozygous recessive genotype
masks/ suppresses expression of another gene (Bombay
phenotype for ABO blood groups)
dominant: dom. allele at 1 gen. locus masks expression of
allele at another locus (summer squash colors)
17. hypostatic- the masked alleles at the second locus
18. complementation analysis- helps determine whether 2 genes that are involved in a
particular thing (formation of wings) are on the same gene, whether they are
alleles or separate genes (sometimes called cis-trans-test, discovered/ created
by Edward B. Lewis)
19. complementation group- all mutations determined to be present in any single gene are
said to fall into the same complementation grp.
20. hemizygous- b/c males can’t exhibit either homozygous or heterozygosity for X-linked
genes, this is called hemizygous
21. criss cross pattern of inheritance- where phenotypic traits ctrld. by recess. X-linked genes
are passed form homozyg. mothers to sons. Occurs w/females exhibiting
recess. trait
22. chromosome theory of inheritance-behavior of chromosomes during meiosis: fact that
genes are transmitted on specific chromosomes
23. sex limited inheritance- when expression of specific phenotype is absolutely ltd. to 1 sex
24. sex-influenced inheritance- the sex of an individual influences the expression of a
phenotype, but is not limited to 1 sex
25. penetrance- % of individuals that show at least some degree of expression of a mutant
genotype
26. expressivity- the range of expression of the mutant genotype
27. genetic suppression- the expression of genes throughout the genome have an effect
on the phenotype produced by the gene in question; when 1 gene suppress the
expression of another
28. position effect- the physical location of a gene in relation to other genetic material
may influence its expression
29. heterochromatin- when the gene is relocated to or near certain areas of the
chromosome that are prematurely condensed and genetically inert
30. conditional- mutations that are affected by temperature are “conditional” & “temperature
sensitive” (Himalayan rabbits & Siamese cats’ coat color changes)
31. nutritional mutations- when the phenotype is not a direct reflection of the organism’s
genotype
32. auxotroph- when an enzyme essential to biosynthetic pathway becomes inactive
(ex: phenylketonuria (PKU) cannot metabolize galactosemia
33. genetic anticipation- studying the genetic onset of phenotypic expression has
intensified the discovery of heritable disorders that exhibit a progressively
earlier age of onset and an increased severity of the disorder in each
successive generation
34. genomic (parental) imprinting- variation of phenotypic expression depending strictly
on the parental origin of the chromosome carrying a particular gene; in some
species certain chromosomal regions and the genes contained w/in them
somehow retain a memory or an imprint of their parental origin that
influences whether specific genes either are expressed or remain
genetically silent.
35. Prader-Willi syndrome- results when only an undeleted maternal chromosome remains
36. Angelman syndorm (AS)- when only an undeleted paternal chromosome remains

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 37. Pleiotropy- expression of a single gene has multiple phenotypic effects, v. common
among human genetic disorders (ex: Marfan Syndrome, heart problems, long
fingers, barrel chested, very tall.)

C. Conditional Prob.
1. asking what is the probability that one outcome will occur give certain
conditions
2. Pc = Pa / Pb (Pa chance of 1 dominate, 1 recessive; Pb prob. of phenotype)
-ex: parents are carriers of CF, what is a child’s chance of being a carrier
-mom is Cc dad is Cc, Punnett square reveals ½ chance divided by ¾ + 2/3 chance
(chance of heterozygous divided by total genotype)

D. Binomial Therom - -Birth order problems

1. one of many alternative outcomes is possible
2. use it to calculate the probability of any specific set of outcomes among a lrg. # of
potential events
3. ex 1: 7 kids, what is prob that ALL will be male:
-(a + b) ^n= 1, use Pascal’s triangle (to the right)

1.) (a + b) ^0 =1
2.) (a + b) ^1 =a + b
3.) (a + b) ^ 2 = a^2 + 2ab + b^3
4.) (a + b) ^3= a^3 + 3a^2 b + 3ab^2 + b^3

-a & b are the respective probabilities of 2 alternative forms, n= # of trials

- a= # boys, 7 & b= #girls, 0
- # trails= 7, so chose the 8th row (1st one doesn’t count)
- 1a^7; 7a^6 b; 21a^5 b^2; 35a^4 b^3; 35a^3 b^4; 21a^2 b^5; 7a b^6; 1b^7
-chose the one w/ all as (boys) 1b^ 7
-P = 1 * (1/2)^7 = 1/128
-ex 2: What is probability of a family of 4 having AT LEAST 1 girl
-simply add up all that have 1 girl
-(a + b) ^4= 1a^4 + 4a^3 b + 6a^2 b^2 + 4ab^2+ 1b^4
- plug in (1/2) for each a and b, then add them up
= 15/16 chance
-ex 3: What is probability of having 2 boys, 2 girls in family of 4?
-a= # boys, 2 b=# girls, 2 trials: n=2
-chose the term that has 2 boys and 2 girls
-(a + b) ^4= 1a^4 + 4a^3 b + 6a^2 b^2 + 4ab^2+ 1b^4
-plug in the (1/2) for the a’s and b’s
- 6 (1/2)^2 * (1/2)^2
- = 6/16 or 3/8, so in families w/ 4 kids, 3 out of 8 should be 2 girls, 2
boyts

D. Summative and Additive law (dice questions)

1. Genetic event prediction:
-predict the outcome of each fertilization even in the term of genetic potential (ex: ½
short plants, ½ tall)
2. Product law:
- 2 or more events occurring independently of one another, but at the same time
(AND), used when calculating probabilities via forked line method
- ex: what is the chance that you will roll snakes eyes w/ 2 dice.
chance of rolling 1 w/ first die = 1/6
chance of rolling 1 w/ 2nd =1/6
chance of rolling 2 1’s = 1/6 * 1/6= 1/36
*(rolling one does not effect outcome of 2nd role)*
- genetic ex: what is prob of green, wrinkled sees (ggww) from dihybrid X
parents: GgWw X GgWw
possible gametes GW, Gw, gW, gw, so p (gw)= ¼
one gamete must come from each parents so p (gw*gw)= ¼ * ¼=1/16

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 3. Sum Law:
-for outcomes that occur more than one way, mutually exclusive (OR)
-ex: what is the chance that you will roll either a 1 or a 6 w/1 die?
chance of rolling a 1= 1/6
chance of rolling a 6= 1/6
chance of rolling 1 or 6 = 1/6 + 1/6 = 1/3

E. Chi- Square Analysis

1. Mono & dihybrid ratios are hypothetical predictions based on:
-each allele is dom/ recess., segregation is normal, independent asstment. occurs,
fertilization is random
2. Chance Deviation:
-toss coin for heads/ tails, ratio should be 1:1, but doesn’t usually happen
-Null hypothesis:
9:3:3:1, assumes no real difference b/w measured value & predicted; reject/
fail to reject (accept)
2. Chi Square
- o(observed)- e (expected) = d (deviation) so x^2 = d/ e (mono)
- then find degrees of freedom (df) = n-1 = dif. categories
- ex: monohybrid is 3:1 so there are 2 categories, df=1
- analyze table/ chart determine if you can fail to reject
- p is a %, if you get .48, 48% of trials would be from chance deviation; must be
larger than 5% to be accepted

F. Forked line method

1. Yellow, round (YR) x Yellow round (YR) (F1)
use punnett square to determine ratios
¾ are yellow ¾ round ---- 9/16 yellow/ round
¼ wrinkled ---- 3/16 yellow & wrinkled
¼ green ¾ round-------------- 3/16 green and round
¼ wrinkled------------1/16 green & wrinkled
G. Polygeneic inheritance
1. Human skin color is a good ex. of polygen. inheritance (multiple genes)
2. assume that 3 dom cap letter genes (A,B,C) ctrl. dark pigment b/c m. melanin is produced
3. a genotype w/all dominant cap genes (AABBCC) has max # of melanin (v. dark skin)
4. geno. w/ all recess. (aabbcc) has lowest amt., v. light skin
H. Blood type questions
1. ABO blood groups
• each individual is A, B, AB, of O phenotype
• phenotype controlled by isoagglutinogen marker on RBC
• I^A & I ^B alleles are dominant to the I^O allele
• I^A & I^B alleles are codominant to each other
Agglutinogens in the ABO Blood system:
Blood Type: Type A (AA /AO): Type B (BB/ BO): Type AB (AB): Type O (OO):
Red blood cell A agglutinogens B aggluts. only A & B aggluts No aggluts
surface proteins only
(phenotype)
Plasma Antibodies b agglutinin only A agglutinin only No agglutinin a & b aggulitinin
(phenotype)

Phenotype: Possible Antigen on Antibody Can donate Can receive

Genotype: RBC surface: made in to: from:
plasma:
A IaIo, IaIa A Anti-B A, AB A, O
B IbIo, IbIb B Anti-A B, AB B,O
AB IaIb AB Neither AB A, B, AB, O
O IoIo O Both A, B, AB, O O

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 2. Ex: If a male has blood type B and female has type A, what are possible blood types in
offspring?
• father could be: IbIb, IbIo
• mother could be IaIa, IaIo
• so child could be: A, B, O
I. Mode of inheritance of Pedigree
1. 2 major categories of genetic diseases
• Autosomal & sex linked (almost always X-linked)
• 2 subtypes: dominant & recessive
2. Autosomal Recessive
• parents generally unaffected
• about 25% of offspring are affected if both parents are carriers
• 2 affected parents will have an affected child (skips generations)
3. Autosomal Dominant
• trait occurs every generation
• when one parents it affected, about 50% of offspring will be
• affected individs usually heterozygous
• unaffected parents don’t produce affected offspring
• 2 affected parents can have an unaffected child
4. Sex-linked Recessive (X-linked)
• recessive genotype is more common in male
• males never pass on their trait to their male offspring
• affected female must have affected sons
• affected carrier female (heterozyg.) will have ~ 50% affected male offspring
and no affected female offspring, but 50% female offspring will be carriers
• ex: colorblindness, more common in males b/c, since male only get one x from
mom, if that x is affected w/ color blindness gene, the mall will be color blind
5. Sex Linked Dominant (X-linked)
• affected male will always produce affected female offspring and unaffected male
offspring (unless mother is affected)
• affected female will produce about 50% affected male and 50% affected female
if she is heterozygous. If she is homo., 100% of offspring will be affected
• no skipping generations
6. Sex Linked (Y chromosome)
• trait is always passed father to son, only males affected
dominant male (shaded in = recessive, carries trait)
circle= female (shaded = recessive)
half-shaded circle =carrier but not affected (sex linked)
7. In reading pedigrees:
• 1st step: is this ex linked or Autosomal?
• if it’s Autosomal:
-if individs. is recess. both parents must have at least one recessive allele.
Means parents can either be hetero/homozygous
-if individ. is dominant, at least 1 parent must have dom. phenol. Can be
either homozyg. dom or hetero.
• if it’s recessive:
-passed on to child from both parents, although parents may seem normal
-all kids of 2 affected ppl. are affected, in pedigrees involving rare traits.

J. Linkage questions (coupling, repulsion, how to crunch numbers

1. First, figure out if it’s coupling/ repulsion
2. Coupling:
-most frequent gamete produced will be those w/2 dom, 2 recessives
3. Repulsion:
-most frequent gametes are w/ 1 dom. and one recessive

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4. Then to determine the linkage distance divide the number recombinant (those gametes other
than those of the parents) gametes into the total games analyzed
-ex:
parents: pr+ vg+ x pr vg
F1: pr+ vg+ (parental, pr+ vg (recombinant), pr vg+ (recomb), pr
vg (parental)
F1 number: pr+ vg+ : 1339
pr+ vg : 151
pr vg + : 154
pr vg : 1195
total : 2839 gametes
305 (151 pr+vg+ plus pr vg+) gametes = recombinant
= 305/2839 x 100= 10.7 cM (centimorgans) = percentage, sort of
if less than 50, is linked. Closer to 1, closer together the traits are