Regents Living Environment

Ms. Campbell
Study Guide- Genetics and Heredity

Karyotypes and Genetic Disorders

Karyotype- picture of chromosomes arranged in homologous pairs, used to identify
chromosomal abnormalities
Homologous pair- 2 chromosomes (1 from mom, 1 from dad) containing the same genes
Sex chromosomes- pair 23, which determines if male (XY) or female (XX)
Amniocentesis- sample of fluid surrounding fetus is removed to later create a karyotype from to
diagnose potential genetic disorders
Nondisjunction- when chromosomes do not separate properly during meiosis, resulting in
gametes with too many or too few chromosomes
Trisomy- 3 copies of a given chromosome
Monosomy- 1 copy of a given chromosome
Down Syndrome- individual has trisomy 21
Klinefelter's Syndrome- male with XXY, has more feminine characteristics
Turner Syndrome- female with only 1 X
Heredity: Chromosomes, Genes, and Alleles
Gene- a segment of DNA that contains instructions for producing a trait
o Example) a gene for tongue rolling
Allele- a particular version of a gene
o Example) being able to roll tongue or not being able to
Dominant allele- if this version of the gene is present, it will always be expressed. It will "hide" the
recessive allele
Recessive allele- this version of the gene will only show up if there are 2 copies present. It will get
"hidden" by the dominant allele
Genotype- the genetic makeup of an organism, contains the letter combination of alleles for a
certain trait
Phenotype- the physical expression or appearance of a trait
Homozygous/pure breeding- a genotype containing the same alleles (both dominant or both
recessive) for a certain trait ex) AA or aa
Heterozygous/hybrid- a genotype containing different alleles (such as one dominant and one
recessive) for a certain trait ex) Aa
Punnett square- a way to predict the possible genotype and phenotype of offspring

Mendels Laws
Mendel documented inheritance in pea plans using good experimental design and
mathematical analysis
He crossed pure breeding (homozygous) yellow peas with pure breeding (homozygous) green
peas. This was the P (parent generation)
o In the first generation (F1) he saw that all the peas were yellow
! When he allowed F1 peas to self-fertilized, he observed both yellow and green
peas in the second generation (F2), in a 3:1 ratio

From his experiments, Mendel generated some laws of genetics:

o Law of Dominance- recessive alleles will always be masked by dominant alleles
o Law of Segregation- alleles separate from each other in the production of gametes
o Law of Independent Assortment- traits are passed on independently of other traits from
parent to offspring
The three factors that lead to genetic variation are recombination, segregation, and
independent assortment
Exceptions to Mendelian Genetics
Incomplete Dominance- a mixing or blending of phenotypes in the heterozygote
o ex) breeding pure red snapdragon flowers with pure white snapdragons yields offspring
that are pink
Codominance- both alleles are expressed, but they do not blend
o ex) roan color in cattle- have both red and white hairs (key word for codominance is
and)
o ex) AB blood type- both the IA and IB alleles are expressed
Multiple Alleles- more than two possible alleles for a trait, but each person still can only have 2
alleles (one from mom, one from dad)
o ex) blood type alleles: IA, IB, i
! IAIA or IAi = type A blood
! IBIB or IBi = type B blood
! IAIB = type AB blood
! ii = type O blood
Polygenic Traits- traits controlled by two or more genes
o ex) height and eye color
Linked Genes- alleles found on the same chromosome are inherited together
o ex) red hair and freckles
Environmental Factors- environment can influence the expression of genes
o ex) identical twins separated at birth can develop appearance and personality
differences
Pedigrees, Genetic Disorders, and Sex-Linked Genes
pedigree- a way of tracing a trait or genetic disease through a family tree

females are circles, males are squares

a solid (filled in circle) indicates that the individual has the disease
a clear (white) circle indicates that the individual does not have the disease
! think clear means in the clear/person does not have the disease
o a half-shaded circle can represent a heterozygous carrier of the disease
sex-linked traits- carried in the X chromosome, makes males more susceptible since they only
have one copy of the X chromosome
o ex) hemophilia, Duchenne muscular dystrophy, red-green color blindness
More genetic diseases
o Phenylketonuria- caused by lack of the enzyme needed to metabolize the amino acid
phenylalanine, which is found in artificial sweeteners
! If people with this disease consume phenylalanine from artificial sweeteners, it
will build up in their brains, causing mental retardation
! Modification of diet to eliminate artificially sweetened food will prevent mental
retardation
o Tay-Sachs Disease- buildup of fatty tissue in the nervous system, causing nervous system
deterioration
o Sickle Cell Anemia- abnormally shaped hemoglobin causes sickle/crescent-shaped red
blood cells, which cannot carry oxygen as well.
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