Patho genetic influences

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31 Terms

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Main function of genes

coding for synthesis of proteins that influence all aspects of body traits and function.

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Permanent proteins ex

Eye pigment, hair color, blood type

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Day to day functional proteins ex

Hormones, antigens, antibodies, enzymes, etc

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How a chromosome is formed

  1. A sequence of nucleotide bases forms a gene

  2. genes make up a DNA molecule

  3. that DNA molecule forms into a specialized shape called a chromosome

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How many pairs of chromosomes do we have?

23 pairs

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How many pair(s) of sex chromosomes do we have?

1

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Alleles

Are almost exactly alike, but can be dominant or recessive or both

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What is GG considered?

Homozygous dominant

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what is gg considered ?

Homozygous recessive

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What is Gg considered?

Heterozygous

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Genotype

Overall genetic composition refers to a specific set of alleles

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Phenotype

A persons observable characteristics

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What are the four different kinds of genetic disorders ?

Mitochondrial DNA, multi factorial, chromosomal, and single gene

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Mitochondrial DNA disorder

Small bits of DNA can be found in the mitochondria

Is very uncommon

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Multifactorial genetic disorders

combination of environmental triggers and variations / mutations of genes, plus sometimes inherited tendencies

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Teratogenic disorders

any influence — eg, drugs, radiation, viruses-- that can cause congenital defects

Happens to baby due to mothers actions

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Chromosomal disorders

type of genetic disorder that results from alterations to the development or structure of a chromosome, which in turn alters the “local” genes -the genes’ functionality is disrupted and they don’t code proteins correctly, giving rise to the phenotype ( S&S ) of the disorder.

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Down syndrome is caused by the alteration of what?

The numbers of chromosomes

Happens to sometimes women >35 y/o

Fetus ends up with an extra chromosome that occurs at site 21

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What is another name for Downs?

Trisomy 21

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What is the phenotype of trisomy 21?

Mental retardation, lowest ears, epicanthic fold to eyes, short limbs, larger than normal tongue

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The Philadelphia chromosome is considered what kind of alteration?

Alteration to the structure of chromosomes

Ex. Deletion, duplication, translocation

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Single gene disorders

Usually due to an inherited mutated gene (are the only ones w a recognizable pattern)

Can be autosomal recessive, autosomal dominant, and sex linked

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Autosomal recessive disorder

Occurs when a mutated recessive gene partners up w an allele that is also recessive

They must both be recessive

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What is an example of an autosomal recessive disorder?

Sickle cell anemia

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what are the S&S of sickle cell anemia?

SOB, weakness, fatigue, ischemic pain

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Anemia

Less than normal numbers of RBCs

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Ischemic pain

Pain in the tissue that is not getting enough oxygen, insufficiency to receive O2

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Autosomal dominant disorders

Occurs when a person inherits a mutated, diseased gene that is dominant

Both homozygous dominant and heterozygous can be affected

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What dz can be caused by autosomal dominant disorder?

Polycystic kidney disease (PKD)

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What are the S&S of polycystic kidney disease?

Hematuria, proteinuria, frequent kidney infections, pain at costovertebral angles and abdomen, kidney stones

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Recombinant DNA

“new” DNA that results from purposefully combining two or more different sources of DNA