Advanced Genetics

6A – Chromosomal and Genetic Changes

K Two basic types of genetic changes:
1) Chromosomal Changes – involves either the number of
chromosomes or the arrangement of genes on a chromosome
2) Gene mutation – changes the sequence of bases in a gene
* Mosses, algae, and many fungi – example of haploid
* Development of an unfertilized egg – parthenogenesis
Euploidy
K Euploidy – the condition of having a chromosome number that is
an exact multiple of the haploid number for that organism
K Its organisms have one or more complete sets of chromosomes
K Polyploid – any cell or organism that has three or more complete
sets of chromosome
K Polyploid cell can be considered as euploid because chromosome
number would be 3n, 4n, 5n, …
*Two basic types of polyploidy
1) that have multiples of the same chromosome sets (4n)
2) that have multiples of different sets of chromosomes (2n + 2n)
K Triploids (3n) – occurs when diploid gamete is fertilized by a
haploid gamete, result zygote
- having three complete sets of chromosome
- produce unfertile (sterile) gametes
- living triploids do not occur in humans or animal kingdom
- they occasionally occur in other kingdoms
- Triploids are usually taller & stronger, more & larger fruits than
their diploid counterparts
- they lack seeds, so must be reproduced asexually
K Tetraploids (4n) – organisms have four complete sets of
chromosomes & common in plants but rare in humans & animals
-Tetraploid Ex. – some human liver cells, white or Irish potato
 -formed when diploid gamete (2n) from 1 organism is crossed
with a diploid gamete (2n) of a different organism (2n + 2n = 4n)
- Ex. – corn, wheat, cotton
Aneuploidy
 Aneuploids – either lack chromosomes or have extra ones
 Most believed to be the result of an error during meiosis
 Nondisjunction – a chromosome pair will occasionally fail to
separate during meiosis
 It results 1) having an extra chromosome (n + 1)
2) lack a chromosome (n – 1)
 Trisomy – gamete that has an extra chromosome unites with a
normal gamete (2n + 1)
- Ex. Down syndrome (trisomy 21)
 Monosomy – gamete that lacks chromosome unites with a normal
gamete (2n – 1)
-Ex. Turner syndrome (XO)
 Aneuploid are common in the plant kingdom
 Having too few or too many chromosome is usually lethal in
animals & humans
6.2 Mutations
G Mutation – any change in the DNA of an organism
G Lethal mutation – that cause death of the organism, either before or
after birth
Changes Within the Chromosome
K Translocation – two nonhomologous chromosomes exchange
genetic information during meiosis
- type of chromosomal change
- can occur by one of two methods
1) broken pieces of 1 chromosome attach to a chromosome from
a different homologous pair
2) a segment of chromosome attaches to the end of a
nonhomologous chromosome that has not broken
K Crossing Over – homologous chromosome exchange information
during meiosis
K Depletion – complete loss of a segment of the chromosome
- Ex. of a harmful deletion cri du chat (cry of the cat)
K Inversion – segment of the chromosome breaks off & reattaches
at the same position
*but in reverse order, or inverted
*less likely to cause serious condition, bc gene is still present
K Gene Mutation – the alteration of an individual gene
K Point Mutation – when only one or a few nucleotides are change
- a gene mutation involving only one nucleotide
= can occur in one of three ways
1) Substitution – when two nucleotides are inverted or a
nucleotide in the DNA sequence is removed & replaced with a
different nucleotide
2) Addition – an extra nucleotide is placed in the DNA sequence
3) Deletion – a nucleotide is removed from the DNA
**Frame shift – nucleotides in the codon rearranged (caused by
the addition or deletion of a nucleotide)
= alteration of genes can cause major effect, minor effect, & no
effects
K Spontaneous Mutation – mutation that happen naturally
K Mutagens – anything that causes a mutation to occur
“Ex. chemicals, radiation, or viruses”
K Somatic Mutation – mutation that occurs in the non-gamete, or
body, cells of the organism
- will not passed on to offspring
- mutation in a somatic cell typically do one of three things
1) It may produce an odd protein
2) It may have no effect
3) It may kill the cell
K Germ mutation – mutation in a gamete or a cell that forms gamete
- will passed on to offspring
- mutation that kills the cell will be lethal as a germ mutation
 - affects every cell in the new organism
6.3 Gene Expression
G Gene Expression – the activation of a gene that results in its
transcription & the production of a specific protein
G Cellular Differentiation – the specialization of cells that occur during
embryological development
 Morphogenesis – the change in form that an organism
undergoes
 Homeotic genes – master control genes
G Which caused genes to be expressed?
- external environmental factors – temperature
- internal environmental factors – hormones, or certain nutrients
G Sex-limited characteristics – characteristics that occur only in males
or only in females (results of gene expression)
G Cancer – unrestrained cell growth that has escaped the normal
controls of the cell cycle
G Tumor – an abnormal mass of cells produced by abnormal cell
division
1)Benign tumor – cancer cells that stay within the body of the
tumor & do not spread to other parts of the body
“Ex. – Mole”
2) Malignant tumor – cancerous, they contain cells that may
spread (metastasize)
G Carcinogen – any substance that increases the risk of cancer
“Can be chemicals, viruses, or ionizing radiation”
G Two types of genes that regulate the cell cycle
1) Proto-oncogenes – code for proteins that stimulate cell division
or that affect the synthesis of growth factors
2) Tumor suppressor genes – produce proteins that prevent
uncontrolled cell growth
G Mutations in these genes can lead to cancer

- oncogene = causes cells to begin to divide uncontrollably, if the

cells overwhelm the tumor suppressor genes, a tumor start to grow
 - “onco” = tumor
G Genetic disorder – any malformation or malfunction of an
individual’s body that is caused by a gene or group of genes
G Albinism – lack a dark-colored pigment called melanin, people with
white hair
6.4 Population Genetics
D Population – a group of individuals of the same species that live in
the same area
D Gene pool – all alleles that all members of a species can possess
D Variations – the genotypic differences between individuals from the
same gene pool
D Mass selection – selected the most desirable animals & plants from
the herd or field as breeding stock
D Hybridization – the crossbreeding of two genetically dissimilar
individuals
* hybrid – the offspring of such a cross
* heterosis – often has superior characteristics, superiority
D Inbreeding – the mating of closely related organism
D Pure strains – organism that are homozygous for various trait
D Genetic Equilibrium – the allele frequencies within a population do
not change
D Allele Frequencies – the number of times an allele occurs in a given
gene pool compared with the number of times other alleles are
expressed
D Genetic drift – genetic change due to chance
D Mutations are the only way new alleles can be produced
6.5 Eugenics
K Eugenics – means “good origins” or “well-born”
 Efforts to improve the human gene pool
K Genetic Screening – used to determine an individual’s genetic
makeup
 3 basic genetic screening
1) Pedigree analysis
2) Analysis of the unborn
 1) Ultrasonic scanning – used to obtain images of the unborn
child
2) Fetoscope – fiber-optic devices inserted into the womb
3) Amniocentesis – removing some of the fluid that
surrounds the unborn child
4) Chorionic villus sampling – tiny projection that are part of
the placenta, & they have the same genetic makeup as the
fetus
3) Analysis of the newborn
K Artificial insemination – the mechanical injection of sperm into a
female’s body
K In vitro fertilization (or test-tube) – fertilized in a laboratory by
human sperm & then implanted back into the woman’s body
K Biological father – the men who supply the sperm
K Biological mother – the woman who supply the ovum
K Surrogate mother – the zygote is implanted in another woman &
serve for other woman who cannot or do not wish to become
pregnant