Complex Inheritance Laws

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62 Terms

1

Chromosome Theory of Inheritance

Genes are located on chromosomes and the behavior of chromosomes during meiosis accounts for inheritance patterns

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2

Exceptions to Mendel's Laws

Some alleles are neither dominant nor recessive, and many traits are controlled by multiple alleles or multiple genes.

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Incomplete Dominance

The heterozygous phenotype is somewhere between the two homozygous phenotypes

- Neither allele is completely dominant or recessive

ex: red flower + white flower = pink flower

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4

Codominance

both traits are fully and separately expressed

ex: Red and white flowers make red and white speckled flowers

ex: Blood type (AB; fully A and fully B)

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5

Blood Type

An example of codominance AND multiple alleles

A= I^A I^A or I^A i (anti- B)

B= I^B I^B or I^B i (anti- A)

AB= I^A I^B (none) - universal receiver

O= ii (anti-A and anti-B) - universal donor

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6

Multiple Alleles

Having more than two alleles for one gene

ex: alleles for blood type = A, B, ii

ex: fur color in rabbits

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7

Polygenic Inheritance

A trait produced by two or more genes

- Usually shows a range in phenotype

ex: skin color, eye color, height, personality

- Occasionally epistasis can occur

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epistasis

When one gene overshadows all of the others

ex: Labrador retriever fur colors, eye colors, albinism

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9

Polygenic

The Heredity of Complex character that determine by a large number of gas

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10

Linked Genes

genes that are physically located on the same chromosome will be inherited together

ex: blonde hair and blue eyes, red hair and freckles, large ears and broad nose

- Linked genes can only be separated or broken apart during crossing over

ex: the red and blue genes are close together, therefore may be inherited together

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Sex-Linked traits

1) Hemophilia - ambos padres

2) Datonismo (color blind) - mamá es el carrier

3) High blood pressure - ambos padres

4) Duchenne muscular dystrophy - mamá es el carrier

5) Fragile x syndrome - mamá o papá

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12

Autosomes

Males and females have exactly the same chromosomes for pairs 1-22

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13

Sex Chromosomes

The last pair of chromosomes that determine the biological sex of the individual

- Females: XX

- Males: XY

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14

Sex-linked genes

genes on sex chromosomes

- If on the X, they are 'X-linked'

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15

X linked genes

Females:

- Inherit x-linked gene as normal and principle of dominance applies

- This is because females have 2 X'S so they inherit two copies of the gene

Males:

- Inherit the gene on the X, but not the Y

- Because they only have 1 X, they express that trait whether it is dominant or recessive, because Y doesn't mask it.

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16

Carrier

Someone who carries the recessive trait but doesn't show it due to having a dominant X to mask it.

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17

Mutation

Any change in DNA; Can occur in ANY cell in the body

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18

Somatic mutations

occur in somatic (body) cells and are passed on by mitosis --> cancer

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19

Germline mutations

occur in the germ line cells that give rise to gametes and are passed on by meiosis --> mutated offspring

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What causes mutations?

- Mistakes made during DNA replication, mitosis, meiosis, or protein synthesis

- Mutagens (radiation, UV light, cigarette smoke, etc.)

- Virus

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2 Main Types of Mutations

1) Gene mutations

2) Chromosome mutations

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22

Gene mutations

happen during DNA replication and cause a change to the original DNA sequence

ex: cystic fibrosis, dwarfism, and sickle cell anemia

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Chromosome mutations

often happen during meiosis, changing the number or location of genes.

ex: Down Syndrome, Klinefelter's Syndrome, Turner's Syndrome

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Klinefelter's Syndrome

Born with an EXTRA chromosome - XXY

- short height

- penis, tall structure

- body proportion

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Turner's Syndrome

MISSING chromosome - X

- short height

- failure of the ovaries to develop

- heart defects

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Point mutations

SUBSTITUTE one nucleotide for another

ex: sickle cell anemia is caused by GAG --> GUG

- Often caused by replication errors or environmental mutagens

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Frameshift mutations

the INSERTION or DELETION of a nucleotide

ex: ATTACC --> ATACC (deletion)

ex: ATTACC --> ACTTACC (insertion)

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Chromosome Mutations

- Duplication

- Translocation

- Nondisjunction

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29

Duplication

changes the size of chromosomes and results in multiple copies of a single gene.

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Translocation

pieces of non-homologous chromosomes exchange segments (during crossing over)

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Nondisjunction

chromosomes that do not separate correctly during anaphase, resulting in 1 or 3 chromosomes rather than 2 per cell.

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Pedigree

chart used to trace the phenotypes and genotypes in a family to determine whether people carry diseases or traits

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Pedigree for an autosomal recessive trait/disease

- Most COMMON inheritance pattern for genetic diseases

- Disease is RARE in the family

- MALES and FEMALES are equally likely to inherit this disease

- Disease often SKIPS generations

ex: Cystic Fibrosis, Sickle Cell Anemia, Phenylketonuria, Tay-Sachs Disease

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Sachs Disease

enfermedad en los nervios (usualmente fatal)

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Phenylketonuria (PKU)

acumulación de aminoácidos (seizures)

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Pedigree for an autosomal dominant trait/disease

- Disease is COMMON in the family (many affected family members)

- MALES and FEMALES are equally likely to inherit this disease

- Disease will NEVER skip a generation (a child cannot inherit the disease if both parents are healthy)

ex: Achondroplasia (a type of dwarfism), Huntington's Disease, Neurofibromatosis

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Huntington disease

afecta diréctamente células en el cerebro

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38

Pedigree for a sex-linked recessive trait/disease

- Disease is RARE in the family (only a few affected family members)

- MALES are often MORE AFFECTED than females

- Diseases often SKIPS generations

- Affected fathers DO NOT pass on to their sons

ex: hemophilia, duchene muscular dystrophy, color blind

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How to determine the pattern of inheritance in a pedigree

1) If there are way MORE MALES THAN FEMALES AFFECTED --> sex-linked trait

2) Parents (heterozygous/Rr) same shade and child (homozygous recessive/rr) different from them

- If child was shaded: Autosomal Recessive Trait

- If the parents were shaded: Autosomal Dominant Trait

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40

Biotechnology

refers to any technology used to change the genetic makeup of living things to make products

ex: production of antibiotics, vaccines, synthetic hormones, biofuels, food production

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Genetic engineering

the direct manipulation of an organism's genome using biotechnology

- the process of replacing genes in an organism in order to ensure that the organism expresses a desired trait.

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Recombinant DNA

artificially made DNA from 2 or more different sources

- can only occur when we know where genes occur on specific chromosomes

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Genome

an organism's complete set of DNA; all of its genes

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Human Genome Project

the first complete map of the entire human genome, completed in 2003

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Encode Project

launched as a follow up to the Human Genome Project to interpret the sequence determined from the HGP

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1000 Genomes Project

an even more detailed genome map, sequencing over 1000 different people from a variety of ethnic backgrounds, completed in 2015

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Gene Maps

show the location of genes on a chromosome

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Restriction Enzymes

Used to cut strands of DNA at specific locations (restriction sites)

- Resulting fragments have at least 1 sticky end and can be joined with other DNA fragments by DNA ligase

- Used to create recombinant DNA

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Polymerase Chain Reaction (PCR)

-a technique that allows you to copy a piece of DNA without a cell

= DNA Amplification

- Can make many copies of a short DNA sequence in a test tube

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Gel Electrophoresis

A laboratory method that uses an electric current to separate DNA fragments based on their molecular size

- Useful for DNA fingerprinting

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51

Personal Genome Sequencing

- Using DNA sequencing technologies to have YOUR personal genome sequence

- This provides information about your physiology and susceptibility to certain diseases

- Could be especially useful for couples who carry genes for genetic disorders to reproduce via IVF

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Gene Cloning

produces multiple identical copies of a genes

ex: Recombinant DNA can be inserting into bacteria plasmids. Then when the bacteria reproduces, it makes millions of cells that all contain the cloned gene

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Transformation

the process of inserting recombinant DNA into host cells

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54

Gene Therapy

inserting a normal gene (or editing an existing gene) to fix an absent or abnormal gene

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CRISPR

a gene editing technique that helps us to understand the genetics behind many diseases

- It doesn't just introduce normal genes, it actually repairs the existing abnormal genes

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Stem Cells

undifferentiated cells that have the potential to become anything

- Mostly found in embryos, but can also be found in adult bone marrow

- Can be genetically manipulated and then introduced to replace tissue that is deficient due to disease or damage

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Selective Breeding

artificially breeding organisms with a desired trait

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58

pharm

producing pharmaceuticals infarm animals or plants

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Genetically modified organisms

organisms altered by recombinant DNA technology for desired traits

ex: GMO

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60

Inbreeding

crossing individuals that are closely related

- can cause health problems

ex: joint tissues in closely bred Labrador retrievers

- Almost all domesticated animals and crops are the result of selective breeding

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61

Hybridization

a type of selective breeding between unrelated organisms

- Occurs between 2 different species

- Offspring are often hardier than either of the parents

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Societal Implications

- Better diagnose and treat diseases (and potentially prevent them)

- After affected genes through genes therapy

- Produce pharmaceuticals and pharm animals and plants

- Using microorganisms for environment cleanup

- Forensics

- Agriculture (GMOs)

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