Lecture 3 Flashcards

1
Q

Ovaries of females contain precursors of all ova they will ever produce
Immature ova are called oocytes

Testes of males produce new sperm continually

Sperm and ova are called germ cells

Mature sperm and ova are called gametes

Sperm and ova contain 23 chromosomes each– half of the chromosomes
necessary (23 pairs or 46 chromosomes)

Sperm cells have half X and half Y sex chromosomes whereas all ova have one X sex chromosome. ( 2 X = female and X, Y = male)

A

Conception

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2
Q

Once fertilization has occurred and the ova and the sperm cell have contributed their 23 chromosomes each it is known as a zygote.
Zygotes undergo a two week rapid cell division, a process known as mitosis.
This two week period is known as zygotic or germinal phase and it covers from conception to implantation of the embryo into the uterus

A

Zygotic period

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3
Q

Embryonic stage is from two weeks to 8 weeks.
Fetus refers the time from the end of the 8th week until birth.

A

Zygotic & fetus period

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4
Q

The DNA – and genes that are sections of DNA- contain chromosomes inherited from both parents and help determine how humans develop.
Epigenetic mechanisms do not change the sequence of the building blocks in DNA but can turn on and off certain genes.

A

IMPORTANT PROCESSES IN PRENATAL DEVELOPMENT

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5
Q

Zygotic stage – cells have potential to develop into many different cell types and are referred to pluripotent cells
Epigenetic mechanisms remove or inactivate methyl groups on DNA during the zygotic stage
During cell division the daughter cells become more and more specialized
Specialized cells make different types of proteins causing cells in different tissues to have different shapes, membranes, structures and functions.

A

CELLULAR DIFFERENTIATION

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6
Q

Epigenetic process called X-Chromosome inactivation or lyonization
Early stage development one or the other of the X chromosomes in cells of females become inactivated so they do not have twice as many X chromosomes as males
X-linked conditions such as Duchenne muscular
dystrophy and Fragile X
Females were once thought not to be at risk of developing

A

Chromosome inactivation

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7
Q

Epigenetic process called Genomic imprinting
Genes can occur in alternative forms known as alleles
Alleles inherited from both the mother and the father
are expressed
Chromosomes that are subject to genomic imprinting this is not the case.
So genes on the maternal allele are expressed because the male allele is imprinted and turned off and vice versa
Interference with genomic imprinting can result in developmental disorders such as Prader-Willi syndrome and Angelman syndromes

A

genomic imprinting

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8
Q

Environmental factors in early development can affect health in adulthood
Example:
Inadequate nutrition prior to conception could result in a child that experiences high blood pressure, heart disease, or diabetes in later life.
Epigenetic process are believed to be involved in this physiological process, but
research is still in its infancy

A

metabolic programming

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9
Q

Metabolic programming or Perinatal programming explore the idea that environmental factors thought to change the way the infant’s brain genes express themselves, the way an infant develops, and may result in neurodevelopmental disorders
such as:
How mothers, fathers, and others interact with an infant
Bacterial and viral infections
Nutritional deficiencies after birth
Ex. A mother that has the flu during pregnancy is thought to increase risk of schizophrenia and autism in offspring. (Theory)
In animal studies, it is believed that the chemical oxytocin is responsible for positive maternal behavior and triggers the production of proteins called growth factors preventing certain genes in the brain from becoming methylated.

A

Perinatal programming

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10
Q

Teratogens are factors that interfere with normal embryonic and fetal differentiation e.g. certain medications, environmental factors etc.
Exert their effects via epigenetic mechanisms
Table 9.2, p. 117 gives a list of potential teratogens
Examples of some of the effects are:
Cleft lip/palate, anencephaly ( neural tube defect whereby a large part of the brain and skull are missing),
ventricular septal defects (whole in the heart at birth), and developmental disability
Fetal death, prematurity, growth retardation, and unexplained structural abnormalities suggest teratogenic effects
Disorders from teratogens can be prevented through community education

A

Teratogens

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11
Q

Four factors in ______ are:
Embryo/fetus age, or gestational age at the time of the exposure
Dosage of the teratogen
Fetal genotype which may make the fetus more or less vulnerable to the
teratogen
Maternal genotype; pregnant women differ in their ability to detoxify teratogens

A

teratogenicity

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12
Q

Most common complications:
Ectopic pregnancy – pregnancy that is not in the
uterus
Rh Negative Disease – mother has Rh Negative blood father has Rh positive
Group B streptococcus infection – present in the
gastrointestinal tract can be passed onto infant
Preterm Labor
Low gestational birth weight

A

Pregnancy complications

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13
Q

Complications can deprive the infant of oxygen or increase the risk of acquiring an infection and result is developmental delay, intellectual disability and/or physical disabilities
Complications include:
Premature labor and premature delivery
Labor that lasts too long
Abnormal presentation of the infant in the birth canal
Premature rupture of the membranes around the infant
Umbilical prolapse (Umbilical cord precedes the infant into the birth canal)

A

Complications of labour and delivery

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14
Q

Born before the 37th week of gestation considered to be premature
Complications associated:
Immature lungs
Increased risk of acquiring pneumonia
Other infections
Jaundice
Intraventricular hemorrhage (hemorrhage into the ventricles of the brain)
Inability to maintain body temperature
Immature digestive tracks

A

Premature birth complications

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15
Q

Ultrasound Scans
Maternal Serum Screening
Amniocentesis
Chorionic villus sampling (CVS)
Percutaneous umbilical blood Sampling (PUBS)

A

PRENATAL DETECTION OF DEVELOPMENTAL DISABILITIES

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16
Q

Determine an accurate gestational age
Picks up certain types of physical
abnormalities
Detects twins, triplets and more infants
Used at early and vulnerable stages of development
Ultrasound during pregnancy is generally considered to be safe

A

Ultrasound scans

17
Q

Completed using a blood sample from a pregnant woman at 15-17 weeks of gestation
Determines the risk that the woman may be carrying a fetus with Down syndrome or Spina Bifida
Has been associated with False positive and false negative results

A

Maternal serum screening

18
Q

Analysis of the fluid and or fetal cells gathered from the wombs amniotic fluid
Usually performed in the second trimester (15 -18 weeks from gestation)
It can be performed as early as the 12th week
When performed before the 14th week it is associated with the risk of miscarriage (0.25% - 0.5%)
Takes approximately two weeks to obtain results
Can detect extra or missing chromosomes or structurally altered chromosomes.

A

AMNIOCENTESIS

19
Q

Performed between the 10th and 12th week of pregnancy
Analysis of cells from the placenta
Analysis for the presence of particular proteins, the presence of extra chromosomes or structurally altered chromosomes, and altered levels of a particular enzyme resulting in a particular disorder.
The risk of miscarriage associated with CVS is slightly higher (0.5% - 1%)
Has been associated with limb defects in infants

A

CHORIONIC VILLUS SAMPLING

20
Q

Analysis from blood from the umbilical cord
Analysis of particular proteins, presence of extra or missing chromosomes or structurally altered chromosomes, and reduced levels of a particular enzyme that results in a particular disorder
Done at 18 weeks of pregnancy or later
Cannot detect Neural Tube defects
Can detect chromosomal abnormalities, hemophilia, and anemia, and some metabolic disorders, infections such as toxoplasmosis and rubella
Results are usually within 72 hours
Can be used to give blood transfusions to the fetus, and administer medication directly
Considered to be safe though invasive
Miscarriage rate associated with PUBS 1-2%

A

PERCUTANEOUS UMBILICAL BLOOD SAMPLING

21
Q

Genetic Counselling
Fetal Surgery
Gene Therapy
Cloning
Stem Cells

A

PREVENTION, INTERVENTION, AND CURE

22
Q

Outer membrane – holds structure and shape
Cytoplasm – cellular metabolism occurs
Nucleus
Contains 23 pairs of chromosomes
Each chromosome made of strands of DNA

A

FUNDAMENTAL COMPONENTS OF THE CELL

23
Q

is copy of DNA specifically for the use of protein construction

A

mRNA

24
Q

RNA differs from DNA as there is a ____ group rather than a deoxyribose group; Thymine becomes Uraceil bases; single stranded

A

ribose

25
Q

Meiosis vs Mitosis
Gametes have 23 chromosomes and somatic cells have 46 (23 pairs)
One chromosomal pair is the sex chromosomes (XY and XX)
Sometimes not all chromosomes come apart during meiosis – Nondisjunction
Can result in an egg or sperm having an extra chromosome or missing one

A

Cell division

26
Q

Permanent errors in DNA sequence that affect protein expression or function
Underexpression, overexpression or complete absence of genes
Caused by:
Small changes in DNA sequencing
Deletions
Duplications
Amplification
Translocations
Inversions

A

Mutations

27
Q

Single Nucleotid Polymorphisms (SNP)
Copy Number Variations (CNV)
Improper protein function – can change structure and physiology
Cells going through Mitosis are usually correctly produced (creating daughter cells)
Incorrect DNA is the most likely source of an inherited developmental disability.
DID as a result of a singular dysfunction of only one protein are most likely to be cured

A

DNA changes

28
Q

People who carry somatic cells with the normal diploid number (23 pairs), but has an extra one or more missing chromosomes or extra chromosomes are said to carry more cell lines
Mosaicism – more cell lines
Lyonization -Mosaicism occurs in all females (inactivation of the second x chromosome)

A

MOSAICISM AND LYONIZATION

29
Q

Caused by too many or too few chromosomes
Change in the structure of a chromosome that
disrupts its function
60% of all first trimester miscarriages are a result of chromosomal abnormality
Syndromes – clinically recognizable sx occurring
together
Not typically inherited, but still genetic
We will learn about specifics syndromes later on in the course

A

Chromosomal disorders

30
Q

Caused by a sequence change or chromosome abnormality affecting one gene
Can also be called “Mendelian” disorders
Inherited in 1 of 3 ways:
Dominant inheritance
Recessive Inheritance
X-Linked inheritance

A

Single gene disorders

31
Q

Non-Mendelian – essential all other patterns of inheritance that do not segretate with Mendelian

A
32
Q

Polygenic – combination of 2 or more genes in the absence of environmental factors

A
33
Q

Multifactoral – genetic mutations + environmental exposures

A
34
Q

Congenital Imprinting Disorders – rare congenital diseases affecting growth an metabolism

A
35
Q

Mitochondrial DNA variation – mtDNA ONLY comes from the mother and are transmitted to all a women’s offspring
DNA Satellite Sequences – DNA is largely silent (Junk DNA). Repetitive sequences (Trinucleotide) are unstable and thought to change length
Transposons – DNA that can’t transpose themselves.
Neurodegenertive Prion Disorders – short proteins that infectious properties (contain no DNA)
Non-coding RNAs – most common RNA transcribed from DNA does not code for proteins. This is an area of research for future interventions.

A

Unusual features of genetics

36
Q

Can determine if some has a genetic anomaly or is carrying one
Cytogenics – looks for changes in chromosome number or structure
Chromosomal Microarray analysis – able to screne the entire genome.
Genome sequencing – part or whole. Used to detect life threatening conditions in newborns.

A

Testing for genetic disorders

37
Q

DNA is not just a blueprint, but a world of possibilities
Genes can be activated or suppressed (greatly influenced by environment)
New research is showing that the human experience is altering DNA and gene expression
Now we are less focused on zygotes and more focused on the environmental manipulations

A

Epigenetics

38
Q
A