Chapter 2: Genetic Foundations, Reproductive Technologies, Environmental Contributions, Gene-Environment Interactions Flashcards
Gregor Mendel
1822–1884
Crossed varieties of pea plants of the same species
Traits he chose included dominant allele
Quite bit of work…
¤ Counted all offspring of 28,000 pea plants
Mendel’s Pea Experiment
Each individual has two hereditary “elements”
When an individual’s alleles are different, one allele can dominate the other
Genetic and Environmental Forces
Genotype: genetic material an individual inherits
Phenotype: observable expression of the genotype
Environment: every aspect of the individual and his or her surroundings other than the genes themselves
Chromosomes are long threadlike molecules made up of 2 twisted strands of DNA
DNA contains all instructions involved in the formation and functioning of an organism
Sex Determination
Sex chromosomes determine and individual’s sex
¤ Females = XX
¤ Males = XY
Gametes are formed through meiosis, which halves the number of chromosomes normally present in body cells
¤ Sperm + Ovum = Zygote
Boy or Girl?
22 of the 23 pairs of chromosomes are =
autosomes
the 23rd pair = sex chromosomes
Does a X-bearing or Y-bearing
sperm fertilize the ovum?
This is what determines the sex of a child.
Multiple Births:
Twins
Fraternal Twins:
Also known as dizygotic twins, and the most common type of twins.
Resulting from 2 eggs being fertilized.
Identical Twins:
When the zygote that has started to replicate
separates into two clusters of cells, they
develop into 2 individuals.
Frequency of 1 in 330 births.
Genes come in pairs
—one from each parent
Some pairs of genes are identical (homozygous), while others are not (heterozygous)
A Mendelian distribution occurs when traits are controlled by a single allele.
Homozygous: alleles from parents are alike, and the child will display the inherited trait
Heterozygous: alleles from parents are different, and the child might display the inherited trait
Careirs
Heterozygous individuals
Phenylketornuria
Infants born with 2 recessive alleles are
affected
Without PAH enzyme, phenylalanine builds up to toxic levels
Incomplete Dominance Pattern
..
X-Linked Pattern
When a harmful allele is carried on the X
chromosome, X-linked inheritance applies
In females recessive alleles on the X chromosome can be suppressed a dominant allele on the other X
Females benefit from a greater variety of genes
¤ Rates of miscarriage, infant death, birth defects, behavior disorders, and learning disabilities are higher in boys
¤ Nature compensates = 106 boys born for every 100 girls
Genomic Imprinting
Chemical marker that activates either father’s or mother’s gene
Imprinted genes represent less than 1% of the
mammalian genome
Often temporary– may be erased in next generation
Helps us understand puzzling genetic patterns
https://www.youtube.com/watch?v=iH9xHCeXQxQ
Fragile X Syndrome
Most common inherited cause of Intellectual Development Disorder (IDD)
Abnormal repetition of a sequence of DNA bases occurs in a special spot on the X chromosome, damaging a particular gene
¤ Suffer from attention deficits and
30–35% display autism symptoms, anxiety
¤ Passed on from mother
Mutation
A sudden but permanent change in a segment of DNA
¤ Radiation = established cause
¤ Germline mutation = takes place in the cells that give rise to gametes
¤ Somatic mutation = normal body cells mutate (can occur any time in life)
– Genetic susceptibility that causes certain body cells to mutate easily in the presence of triggering events
Polygenic Inheritance
Many traits of interest involve many genes – Height – Intelligence – Infant temperament – Shyness
BIRTH DEFECTS
Birth defects are serious conditions that change the structure of one or more parts of the body
Nearly 120,000 babies are affected by birth defects each year
More than 4,000 different types
GENETIC COUNSELING
Process designed to help couples assess their chances of giving birth to a baby with a hereditary disorder
– Miscarriages
– Known genetic problems
– Delayed childbearing
PREVENTATIVE METHODS:
BEFORE CONCEPTION
Identify women or couples at risk.... – Family history – Medication. Accutane? – Exposure Consider getting tested to see if parents are carriers of disease – Cystic Fibrosis, Sickle Cell
POST-PREGNANCY GENETIC METHODS:
WHAT ARE THE OPTIONS?
Early screening and (if necessary) diagnostic testing
Decision must be made by the couple
Considerations:
– Terminate an abnormal fetus
– Gather as much information a possible in order to be prepared
– Make special arrangements for potentially high-risk pregnancy
SCREENING VS. DIAGNOSTIC TEST
Screening Test:
– Assesses an individual’s risk
– Identifies disease or defect using a variety of procedures
– Fewer number of procedures utilized, not as much risk involved
Diagnostic Test:
– Designed to identify a disease or defect
– Gives patient a yes/no answer
– More invasive procedures