Genetics
The Argument Of Nature Vs. Nurture
Nature
The influence on physical and mental traits as well as behavior, is caused by genetics and biology.
Nurture
The influence on physical and mental traits as well as behavior, is caused by experiences, learning socialization, and the environment.
It is better to this of it as nature and nurture rather than Nature Vs. Nurture because their influence is interconnected.
Twins & Research
Research has shown that the more genetic similarity between family members, the higher the concordance rates; similarly, in twin studies, concordance rates in monozygotic twins (MZ) are higher than in dizygotic (DZ) twins.
Heritability
The percentage of variation in a characteristic that is attributed to genetics.
Monozygotic twins MZ (Identical twins):
Are genetically identical.
Develop from the same egg.
Have the same sex.
Share the same DNA and womb.
Dizygotic twins DZ (fraternal twins):
Are no more alike than other siblings.
Develop from two different eggs.
Have the ability to be of different sexes.
Share only 50% of their genes on average and share the same womb.
Epigenetics
The study of how experiences and behaviors influence the expression of genes.
Epigenetic effects are linked to a number of disorders.
Can affect multiple generations by affecting the sperm and egg.
Terminology
DNA:
The molecule of heredity/shape of a double helix.
Gene:
A portion of DNA coding for a particular trait.
Chromosomes:
A much larger structure with two types:
Autosomes
Sex chromosomes
There are 23 chromosomes, 22 autosomes, and 1 sex chromosome; females produce XX, and males produce XY.
Alleles:
Two forms of the same gene.
One allele is found in each paired chromosome.
Are either dominant or recessive.
Homozygous:
Are alleles/genes of the same type (either dominant or both recessive.)
Heterozygous:
Has one dominant and one recessive allele.
Genotype:
Actual genes/alleles inherited (BB, Bb, bb)
Phenotype:
An outward expression is the physical or behavioral representation of genes (Brown or Blue eyes.)
Dominant:
An allele that is expressed if present.
Recessive:
An allele that is masked.
Genetic Testing
Test prospective parents to see if they are carriers of recessive alleles for disorders such as PKU or Sickle-cell anemia.
Prenatal genetic testing types include:
Amniocentesis
The insertion of a needle into the abdomen to remove a portion of amniotic fluid to test for genetic disorders.
Chorionic Villus Sampling (CVS)
Tests cells from the placenta.
Karyotype:
A photograph of chromosomes.
An example of newborn screening is a Guthrie test for PKU.
An autosomal dominant will have the disorder if they get one defective gene. Autosomal dominant disorders cannot be a carrier form.
An autosomal recessive needs to obtain two defective genes to have the disorder; however, a person who has one of two genes as defective they are a carrier.
Types of Disorders
An abnormal number of autosomes.
An abnormal number of sex chromosomes.
Polygenic.
Disorders include:
PKU: Phenylketonuria: autosomal recessive.
Sickle-cell anemia: autosomal recessive.
Huntington’s: autosomal dominant.
Color blindness: X-linked and recessive.
Down Syndrome: Extra autosome.
Sex Chromosomes: any variation from XX or XY
Phenylketonuria
Is an autosomal recessive disorder.
There can be carriers.
Is a metabolic disorder where a person lacks the enzyme to convert phenylalanine into tyrosine.
Without proper treatment, phenylalanine builds up, causing severe intellectual disabilities.
Tested for in newborns using the Guthrie test.
Treatment consists of diet therapy; those who have the disorder are treated with a diet that is free of phenylalanine and are given tyrosine supplements.
Sickle-Cell Anemia
An autosomal recessive disorder.
Requires two defective genes.
Huntington’s Disease
Symptoms are listed in the previous sheet of notes.
Autosomal dominant disorder.
Needs only one defective gene.
If one parent has the disorder, each child has a 50% chance of receiving the disorder.
Color Blindness
An X-linked disorder | A gene carried on the X chromosome.
A recessive disorder.
More common in males because males only need one defective gene to be color blind, and females need two defective genes to be affected.
Down Syndrome
Mainly a genetic cause but is not hereditary.
Its cause is nondisjunction, an extra 21st chromosome.
An increased amount of cases in elder mothers.
Tests include Amniocentesis & CVS (chorionic villus sampling.)
Symptoms include:
Distinct facial features.
Short stature.
Mild or moderate intellectual disability.
Heart defects: Can be corrected with surgery.
Increased risk of developing dementia around the age of 50.
Genotype Syndromes
XO: Turners.
XXX: Trisomy X.
XXY: Klinefelter.
XYY: Jacob’s.
YO: Not viable.
Turner’s Syndrome
Only one X chromosome.
Occurs only in females.
Problems with ovaries lead to infertility and hormonal problems.
It’s the failure to develop a secondary sex characteristic at puberty/given hormones to develop.
Usually have problems with visual-spatial skills.
Klinefelters Syndrome
XXY: A male with an extra chromosome.
Smaller testes and penis | Less testosterone.
Sterility.
Most have normal intelligence, but some have learning disabilities.
Variations such as XXXY and XXXXY and more likely to have intellectual disabilities.
Jacob’s Syndrome
XYY: A male with an extra Y chromosome.
Has been referred to as supermale syndrome in the past.
Taller.
Some fertility problems.
Usually have normal intelligence, but some can have learning disabilities.
Genetics
The Argument Of Nature Vs. Nurture
Nature
The influence on physical and mental traits as well as behavior, is caused by genetics and biology.
Nurture
The influence on physical and mental traits as well as behavior, is caused by experiences, learning socialization, and the environment.
It is better to this of it as nature and nurture rather than Nature Vs. Nurture because their influence is interconnected.
Twins & Research
Research has shown that the more genetic similarity between family members, the higher the concordance rates; similarly, in twin studies, concordance rates in monozygotic twins (MZ) are higher than in dizygotic (DZ) twins.
Heritability
The percentage of variation in a characteristic that is attributed to genetics.
Monozygotic twins MZ (Identical twins):
Are genetically identical.
Develop from the same egg.
Have the same sex.
Share the same DNA and womb.
Dizygotic twins DZ (fraternal twins):
Are no more alike than other siblings.
Develop from two different eggs.
Have the ability to be of different sexes.
Share only 50% of their genes on average and share the same womb.
Epigenetics
The study of how experiences and behaviors influence the expression of genes.
Epigenetic effects are linked to a number of disorders.
Can affect multiple generations by affecting the sperm and egg.
Terminology
DNA:
The molecule of heredity/shape of a double helix.
Gene:
A portion of DNA coding for a particular trait.
Chromosomes:
A much larger structure with two types:
Autosomes
Sex chromosomes
There are 23 chromosomes, 22 autosomes, and 1 sex chromosome; females produce XX, and males produce XY.
Alleles:
Two forms of the same gene.
One allele is found in each paired chromosome.
Are either dominant or recessive.
Homozygous:
Are alleles/genes of the same type (either dominant or both recessive.)
Heterozygous:
Has one dominant and one recessive allele.
Genotype:
Actual genes/alleles inherited (BB, Bb, bb)
Phenotype:
An outward expression is the physical or behavioral representation of genes (Brown or Blue eyes.)
Dominant:
An allele that is expressed if present.
Recessive:
An allele that is masked.
Genetic Testing
Test prospective parents to see if they are carriers of recessive alleles for disorders such as PKU or Sickle-cell anemia.
Prenatal genetic testing types include:
Amniocentesis
The insertion of a needle into the abdomen to remove a portion of amniotic fluid to test for genetic disorders.
Chorionic Villus Sampling (CVS)
Tests cells from the placenta.
Karyotype:
A photograph of chromosomes.
An example of newborn screening is a Guthrie test for PKU.
An autosomal dominant will have the disorder if they get one defective gene. Autosomal dominant disorders cannot be a carrier form.
An autosomal recessive needs to obtain two defective genes to have the disorder; however, a person who has one of two genes as defective they are a carrier.
Types of Disorders
An abnormal number of autosomes.
An abnormal number of sex chromosomes.
Polygenic.
Disorders include:
PKU: Phenylketonuria: autosomal recessive.
Sickle-cell anemia: autosomal recessive.
Huntington’s: autosomal dominant.
Color blindness: X-linked and recessive.
Down Syndrome: Extra autosome.
Sex Chromosomes: any variation from XX or XY
Phenylketonuria
Is an autosomal recessive disorder.
There can be carriers.
Is a metabolic disorder where a person lacks the enzyme to convert phenylalanine into tyrosine.
Without proper treatment, phenylalanine builds up, causing severe intellectual disabilities.
Tested for in newborns using the Guthrie test.
Treatment consists of diet therapy; those who have the disorder are treated with a diet that is free of phenylalanine and are given tyrosine supplements.
Sickle-Cell Anemia
An autosomal recessive disorder.
Requires two defective genes.
Huntington’s Disease
Symptoms are listed in the previous sheet of notes.
Autosomal dominant disorder.
Needs only one defective gene.
If one parent has the disorder, each child has a 50% chance of receiving the disorder.
Color Blindness
An X-linked disorder | A gene carried on the X chromosome.
A recessive disorder.
More common in males because males only need one defective gene to be color blind, and females need two defective genes to be affected.
Down Syndrome
Mainly a genetic cause but is not hereditary.
Its cause is nondisjunction, an extra 21st chromosome.
An increased amount of cases in elder mothers.
Tests include Amniocentesis & CVS (chorionic villus sampling.)
Symptoms include:
Distinct facial features.
Short stature.
Mild or moderate intellectual disability.
Heart defects: Can be corrected with surgery.
Increased risk of developing dementia around the age of 50.
Genotype Syndromes
XO: Turners.
XXX: Trisomy X.
XXY: Klinefelter.
XYY: Jacob’s.
YO: Not viable.
Turner’s Syndrome
Only one X chromosome.
Occurs only in females.
Problems with ovaries lead to infertility and hormonal problems.
It’s the failure to develop a secondary sex characteristic at puberty/given hormones to develop.
Usually have problems with visual-spatial skills.
Klinefelters Syndrome
XXY: A male with an extra chromosome.
Smaller testes and penis | Less testosterone.
Sterility.
Most have normal intelligence, but some have learning disabilities.
Variations such as XXXY and XXXXY and more likely to have intellectual disabilities.
Jacob’s Syndrome
XYY: A male with an extra Y chromosome.
Has been referred to as supermale syndrome in the past.
Taller.
Some fertility problems.
Usually have normal intelligence, but some can have learning disabilities.