● Basics yada yad random hybrid ig whatever
○ Test cross = unknown genotype X known genotype
○ Monohybrid cross involves one trait; dihybrid cross involves two traits; trihybrid so
on
■ Monohybrid w/ two hetero is [Link] genotypically and 3:1 phenotypically
■ Dihybrid w/ two hetero is [Link] (16 boxes total)
○ Heterochromatin is highly condensed, gene-poor, and transcriptionally silent,
whereas euchromatin is less condensed, gene-rich, and more easily transcribed
■ 92% of the human genome is euchromatin
■ Heterochromatin is not found in prokaryotes
■ Heterochromatin is condensed and generally inactive
■ Euchromatin is uncoiled
○ Random chromosome stuffies
■ Has centromere that has kinetochore which attaches to spindle fibers for
cell division
■ Telomeres protects both ends of chromosomes from degradation,
basically repeated (TTAGGG) thousands of of times
○ Gene vs allele basics
■ gene - a unit of inheritance that usually is directly responsible for one trait
or character.
● Located on a locus
■ Each individual has two genes for each trait, one comes from dad and the
other from mom.
■ allele - alternate forms of a gene. Usually there are two alleles for every
gene,
■ sometimes there are more than two alleles present in population – termed
multiple alleles
○ Genotype vs phenotype
■ phenotype - the physical expression of the genes for the trait by an
individual
■ genotype - the gene makeup of an organism. Phenotype is the trait of an
individual expresses while genotype is the two genes that cause that trait
■
○
● Mendelan inheritance has just dominant and recessive alleles
○ Law of segregation
■ When an organism makes gametes, each gamete receives just one gene
copy (allele), which is selected randomly. Segregation = allele copies are
‘segregated’
○ Law of independent assortment
■ the alleles of two (or more) different genes get sorted into gametes
independently of one another.
■ Exception: linkage occurs when genes are inherited together because
they are closely located on the same chromosome
● 5.14 Non-Mendelian Inheritance – Human Biology
○ Codominance
■ Both dominant alleles are expressed in heterozygotes
● ABO blood types, roan cattle, flowers with two distinct petal colors,
speckled chicken/bird
○ Incomplete dominance
■ Blend of two traits, there is an intermediate
● This is seen in animal fur color and flowers (blended)
○ Epistasis is a circumstance where the expression of one gene is modified
(masked, inhibited, suppressed) by the expression of one or more other genes.
■
○ Pleiotropy occurs when one gene affects multiple characteristics
■ Marfan syndrome, PKU, sickle cells
○ Polygenic traits are controlled by two or more genes
■ Skin color and height
● Height is bell curve btw
■ Often show continuous variation
● Karyotype: A karyotype is an individual's complete set of chromosomes. The term also
refers to a laboratory-produced image of a person's chromosomes isolated from an
individual cell and arranged in numerical order. A karyotype may be used to look for
abnormalities in chromosome number or structure.
○ Humans have 46 chromosomes, 44 are
autosomes (non sex) and 2 are sex chromosomes
○ nondisjunction – chromosomes do not separate during meiosis.
■ Results in monosomy and trisomy which are examples of aneuploidies
■ Trisomy 21 is the most common aneuploidy, causing down syndrome
○ Sex chromosome aneuploidies include
■ turner’s syndrome (XO, meaning there is only one sex
chromosome), affects females
■ Klinefelter’s syndrome (XXY) affects males
● Polyploidy is the heritable condition of possessing more than two complete sets of
chromosomes. Polyploids are common among plants, as well as among certain groups
of fish and amphibians.
○ Diploid has two sets
■ Humans are diploid and has 23 pairs of chromosomes, with 46
chromosomes (with the exception of gametes)
■ Some rodent has 92, or 46 pairs which is the most but oh well
○ Haploid has 1 set
● XY is male, XX is female
○ Females have barr bodies which is an inactivated X chromosome
○ The Y chromosome is distinctly shorter
○ Sperm carries either X or Y chromosomes, egg always has X chromosome
● X linked genetic disorders
○ Often recessive
○ Show up in males more commonly as they have 1 copy of the X
chromosomes
○ Include Duchenne muscular dystrophy, some types of colorblindness (red green
color blindness) and hemophilia A
● Inheritance patterns
Autosomal Dominant
● Don’t skip generations
● Affected parents can have unaffected children
● Example: Huntington’s Disease (trinucleotide repeats), Achondroplasia (a type of dwarfism), Marfan
Syndrome
Autosomal Recessive
● Skips generations
● Unaffected parents can have affected children
● Example: Cystic Fibrosis, Sickle Cell Disease, Tay-Sach’s disease (jewish heritage, usually causes death by
age 5), phenylketonuria, albinism
X-linked dominant
● Disease never travels from father to son
● All daughters of an affected father will be affected
● Example: Vitamin D resistant Rickets, Rett Syndrome, ichthyosis simplex (severe dry skin like fish scales),
hypertrichosis (very hairy)
X-linked recessive
● Males are more affected
● Disease tends to transfer from father to daughter and mother to son
● Disease never transfers from father to son
● Example: Hemophilia (defect in blood coagulation factor, preventing blood clotting), red green
Color-Blindness, Duchenne muscular dystrophy
● Note: Most sex-linked traits are recessive.
● Multifactorial inheritance - many factors (multifactorial) both genetic and environmental
are involved in producing the trait or condition.
○ Examples: height, weight, cleft palate, spina bifida
●
● Other genes
○ Homeotic genes (Hox) are any of a group of genes that control the pattern of
body formation during early embryonic development of organisms. These genes
encode proteins called transcription factors (which contain a region called the
homeodomain) that direct cells to form various parts of the body, forming
anatomical structures
■ Such as in drosophila melanogaster (fruit fly), mice and humans
○ Maternal effect genes are those genes whose products, RNA or protein, are
produced or deposited in the oocyte or are present in the fertilized egg or embryo
before expression of zygotic genes is initiated.
■ Example: in humans, gestational diabetes mellitus (mothers having
diabetes in pregnancy affects offspring having diabetes)
■ In drosophila: Maternal-effect genes are required for the normal
development of the embryo. They produce transcription products that
establish polarity. These genes also determine the basic body plan of the
embryo. In Drosophila embryogenesis, examples of maternal genes are
bicoid, nanos and caudal.
○
● Other sorta related stuff
○ 64 possible codons
○ Central dogma DNA - RNA - Protein, exception retroviruses which RNA- DNA but
then goes dogma afterwards
○ A P E sites (goes from A to P to E)
■ The A site accepts an incoming tRNA bound to an amino acid. The P site
holds a tRNA that carries a growing polypeptide (the first amino acid
added is methionine (Met)). The E site is where a tRNA goes after it is
empty, meaning that it has transferred its polypeptide to another tRNA
(which now occupies the P site).
