CHYS 1F90
Dr. John McNamara
Fall 2023 – Lecture 3 Notes
Important:
Midterm assignment Preliminary Information
Posted next week
1000-word essay
Based on an integration of material from Lecture and Readings
APA formatting for referencing
Due dates Friday Oct 27th
Submitted through Brightspace
APA and Assignment workshop in seminars week of Oct 16
Genetics
Are you your genes?
Genetics is something to investigate.
The beginning
Bio dad and bio mom = biological
In something like your hair, skin and salvia has your DNA or like chromosomes
Conception
Father’s sperm cell + Mother’s ovum (egg cell) = Zygote
46 chromosomes total
23 from each parent
It attaches to the uterus it furthers fertilization. Some people don’t know they are
pregnant- get symptoms.
The first to ten days the egg (zygote) does not attach to the uterus. But after 10 th
days toxins can get into the zygote.
Mitosis- Mitosis begins after fertilization
The cells will multiplies and contains all 46 chromosomes.
Chromosomes
Each chromosome contains genes
– Sections of chromosomes
– Made up of DNA
The chemical code for development
Chromosomes has adenine (A), thymine (T), guanine (G) and cytosine (C)
Chromosome 6- HFE 6p21.3 is correlates to learning disability.
The chromosomes are given from the parents- they are inheritance.
Bio Mom & Bio Dad
Why Not 50% mom – 50% dad?
Identical twins are 100% to their siblings and have the same DNA.
Meiosis & Crossing-Over
Chromosomes within sperm cells divide in half before they fertilize an ovum
or egg cell
Chromosomes with egg cells divide in half before they are fertilized
The “splitting” is random
The randomness creates variation in the resulting embryo
This complicated process is call “Meiosis”
Sperms and egg cells will split- 46 chromosomes will become 23 chromosomes.
Meiosis is random that take the information is also random. Therefore, siblings
will not have the exact same genetic information. However, twins will get the same
genetic information. Identical twins are very rare but fraternal twins are more
popular.
Male or Female?
23rd pair of chromosomes
– Males have X and Y
– Females have X and X
Sex of child determined by father’s sperm
Women can only contribute “girls”
If girls happens in the family its random. Meiosis is something that need to look
into
What Do Genes Do?
Guide cells to develop different parts of body
Is random but it’s still 50%. Genes are complicated and contains instructions and
how they behaviors. That genes for height will give the instructions. Some genes
are more specific than others.
Gene Expression
Some genes are stronger than others
Generally, your strongest genes will be the ones that express
Dominant genes – “N”
Recessive genes – “n”
The dominant genes (common genes) are the genes that express more significant
than recessive genes. Recessive genes will still show but its weak.
Example
Brown eyes (dominant gene)
Dominant genes represented by “N”
Bio Dad Possibilities Bio Mom Possibilities
NN or Nn or Nn or Nn or nn or nn NN or Nn or NN or NN or nn or NN
Baby
NN or nn or NN or nN or nn or nN
Dominant Genes
Dominant genes are almost always stronger than recessive genes.
Nn
N = will always win out
Genetic Mutation
A change to a gene’s DNA sequence to produce something different.
An unusual change of instructions
Near sighted are genetic mutation – not working properly.
Near sighted are recessive gene- so the parents must have carried the gene
Mom & Dad Heterozygotes
Expressing Recessive Traits
Both parents must carry recessive gene (although they don’t have to express the
trait)
Chromosomal Abnormalities
How do chromosomal abnormalities occur?
• Inherited mutation (bio mom/dad)
• De novo mutation (spontaneous or triggered by prenatal
environment) It hasn’t been passed by the parents. It happens after in
one child.
Most abnormalities are lethal. This causes miscarriage- lethal
inherit chromosome genes- parents somehow carry but doesn’t
show. Some inherit aren’t lethal but somehow there is a solution.
Some are not, and some babies are born with +1 or -1 chromosome
or a genetically based disease
Chromosomal Abnormalities
Down syndrome (trisomy 21) most common- there is three 21 chromosomes.
– extra 21st chromosome
– Intellectual impairment (IQ < 70)
– Distinctive physical features
– Risk increases with age of mother.
Chromosomal Abnormalities
Sex Chromosomes
– Typically females have XX and males XY
Female abnormalities
– Turner syndrome: X--
– Poly-X syndrome: XXX, XXXX, or XXXXX
Male abnormalities
– Klinefelter’s syndrome: XXY or XXXY
– Supermale syndrome: XYY, XYYY, or XYYYY comes with extra
testosterone – big sacs
Genetic Abnormalities
Parents often healthy; both must be carriers
Tay Sachs- Children won’t survive past the age of 3 or 4 years old.
Tay Sachs can be tested from the parents.
Example of both parents as carriers
Since we understand genetic, we can do testing for any abnormalities. The cells
cannot be tested by itself as in one but as a group as it grows to a bigger size.
Therefore, it can be tested for any abnormalities.
Applications
Genetic counseling available
Prenatal detection techniques
– Amniocentesis
Analysis of amniotic fluid
– Chorionic villus sampling (CVS)
Fetal cells extracted from chorion membrane.
Can be performed earlier than amniocentesis.
– Ultrasound
Scan womb with sound waves- they can do testing from different
place such as at the back of the neck can be tested for down
syndrome.
Treatments
Fetal surgery- remove the genes that is bad; can be sliced out.
Can be unethical wrong and requires conversation. Can take out serious dangerous
diseases but still be unethical. There’s a lot research in some diseases such as
autism or learning disabilities.
Genetic engineering
– Gene replacement therapy
– Germline gene therapy
Lessons Learned from Rhesus Monkeys (Suomi, 1999)
20% of Macaque Population
Highly reactive monkeys
Prolonged HPA activation
High cortisol levels
High stress
Unusually supportive moms
20% of macaque mothers exhibit very supportive care of their infants.
Adoption
-Cross
Lessons Learned from Rhesus Monkeys
Neural sculpting
Social and physical environments shape the networks and patterns of the brain.
Modification of neural pathways as a function of experience
He shaped the brain of the monkeys.
Neurological Dysfunction
Children may have a susceptibility towards neurological dysfunction, but high-
quality environments remain the most predictive variable of success.
