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Cystic Fibrosis Produced by double recessive alleles. It involves having a thick mucus on the inside of lungs. It leads to infection and trouble breathing. They are still looking for a cure In 1989 they were able to isolate and clone the gene for Cystic Fibrosis There are just basic treatments for those afflicted by C.F.
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Autosomal Recessive Autosomal Recessive InheritanceInheritance
by Kyle Cummingsby Kyle Cummings
What Does It Mean?What Does It Mean? The word autosomal means that it is on The word autosomal means that it is on
the 22 non-sex chromosome pairs.the 22 non-sex chromosome pairs. Recessive means that both of the same Recessive means that both of the same
allele must be present to show the trait in allele must be present to show the trait in the phenotype.the phenotype.
Three diseases that are like this: Cystic Three diseases that are like this: Cystic Fibrosis, Sickle Cell Anemia, and Tay Fibrosis, Sickle Cell Anemia, and Tay Sach’s Disease.Sach’s Disease.
Cystic FibrosisCystic Fibrosis Produced by double recessive alleles.Produced by double recessive alleles. It involves having a thick mucus on the It involves having a thick mucus on the
inside of lungs.inside of lungs. It leads to infection and trouble breathing.It leads to infection and trouble breathing.
They are still looking for a cureThey are still looking for a cure In 1989 they were able to isolate and clone the In 1989 they were able to isolate and clone the
gene for Cystic Fibrosisgene for Cystic Fibrosis There are just basic treatments for those There are just basic treatments for those
afflicted by C.F.afflicted by C.F.
Cystic Fibrosis Cystic Fibrosis (continued)(continued)
Treatments:Treatments: Patting with some force on back and chest Patting with some force on back and chest
to loosen mucus on lungs.to loosen mucus on lungs. With modern medicine a variety of new ways With modern medicine a variety of new ways
to fight it have arisen.to fight it have arisen.
Cystic Fibrosis Cystic Fibrosis (continued)(continued)
Sickle Cell AnemiaSickle Cell Anemia Produced by double recessive alleles.Produced by double recessive alleles. Causes blood cells to form in a sickle Causes blood cells to form in a sickle
shape under low oxygen condition.shape under low oxygen condition. This impedes the flow of blood because it This impedes the flow of blood because it
makes the cells less flexible and unable to makes the cells less flexible and unable to move through smaller capillaries.move through smaller capillaries.
Sickle Cell Anemia Sickle Cell Anemia (continued)(continued)
Variety of Treatments available:Variety of Treatments available: The infections brought on by it are controlled The infections brought on by it are controlled
by many different antibiotics.by many different antibiotics. Blood transfusions are very commonBlood transfusions are very common It can be cured It can be cured through a very risky through a very risky
procedure of replacing the bone marrow with procedure of replacing the bone marrow with healthy bone marrow.healthy bone marrow. This is a treatment because the bone marrow This is a treatment because the bone marrow
produces the blood cells, and healthy marrow produces the blood cells, and healthy marrow makes healthy blood cells.makes healthy blood cells.
Sickle Cell Anemia Sickle Cell Anemia (continued)(continued)
Tay-Sachs DiseaseTay-Sachs Disease Produced by double recessive allele.Produced by double recessive allele. A fatty substance of the brain A fatty substance of the brain
accumulates heavily.accumulates heavily. Causes deterioration of nervous system.Causes deterioration of nervous system.
Results in death at an early age.Results in death at an early age. Other forms of it come on later in life, some not Other forms of it come on later in life, some not
until adolescence or even in someone’s mid-30’s.until adolescence or even in someone’s mid-30’s. These milder later developing forms are brought on by These milder later developing forms are brought on by
having less of the Hex A rather than not having it at all.having less of the Hex A rather than not having it at all.
Tay-Sachs Disease Tay-Sachs Disease (continued)(continued)
No cure or effective treatments:No cure or effective treatments: Doctors provide medication that will only Doctors provide medication that will only
ease the suffering.ease the suffering. They attempt to manage seizures and other They attempt to manage seizures and other
symptoms.symptoms. As for all of the diseases I have described, As for all of the diseases I have described,
gene therapy is one solution further in the gene therapy is one solution further in the future.future.
Tay-Sachs Disease Tay-Sachs Disease (continued)(continued)
BibliographyBibliography "About CF: Causes, Signs & Symptoms "About CF: Causes, Signs & Symptoms
of Cystic Fibrosis | CF of Cystic Fibrosis | CF Foundation." Foundation." About CF: Causes, Signs & About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Symptoms of Cystic Fibrosis | CF FoundationFoundation. 18 Feb. 2013 . 18 Feb. 2013 <http://www.cff.org/AboutCF/?<http://www.cff.org/AboutCF/?gclid=CKXT2dH1wLUCFa1AMgodIXEAEgclid=CKXT2dH1wLUCFa1AMgodIXEAEA>. A>.
Bibliography (continued)Bibliography (continued) "Cystic Fibrosis Gene." "Cystic Fibrosis Gene." Cystic Fibrosis GeneCystic Fibrosis Gene. .
18 Feb. 2013 18 Feb. 2013 <http://www.ornl.gov/sci/techresources/Human<http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml>. _Genome/posters/chromosome/cftr.shtml>.
"Sickle Cell Anemia Disease Profile." "Sickle Cell Anemia Disease Profile." Sickle Sickle Cell Anemia Disease ProfileCell Anemia Disease Profile. 18 Feb. 2013 . 18 Feb. 2013 <http://www.ornl.gov/sci/techresources/Human<http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml> _Genome/posters/chromosome/sca.shtml>
Bibliography (continued)Bibliography (continued) "Sickle cell disease." "Sickle cell disease." - Genetics Home - Genetics Home
ReferenceReference. 18 Feb. 2013 . 18 Feb. 2013 <http://ghr.nlm.nih.gov/condition/sickle-<http://ghr.nlm.nih.gov/condition/sickle-cell-disease>. cell-disease>.
"Tay-Sachs disease." "Tay-Sachs disease." - Genetics Home - Genetics Home ReferenceReference. 18 Feb. 2013 . 18 Feb. 2013 <http://ghr.nlm.nih.gov/condition/tay-<http://ghr.nlm.nih.gov/condition/tay-sachs-disease>. sachs-disease>.