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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.

I

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.