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.