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Page 1: Autosomal Recessive Inheritance by Kyle Cummings

Autosomal Recessive Autosomal Recessive InheritanceInheritance

by Kyle Cummingsby Kyle Cummings

Page 2: Autosomal Recessive Inheritance by 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.

Page 3: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 4: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 5: Autosomal Recessive Inheritance by Kyle Cummings

Cystic Fibrosis Cystic Fibrosis (continued)(continued)

Page 6: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 7: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 8: Autosomal Recessive Inheritance by Kyle Cummings

Sickle Cell Anemia Sickle Cell Anemia (continued)(continued)

Page 9: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 10: Autosomal Recessive Inheritance by Kyle Cummings

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.

Page 11: Autosomal Recessive Inheritance by Kyle Cummings

Tay-Sachs Disease Tay-Sachs Disease (continued)(continued)

Page 12: Autosomal Recessive Inheritance by Kyle Cummings

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>.

Page 13: Autosomal Recessive Inheritance by Kyle Cummings

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>

Page 14: Autosomal Recessive Inheritance by Kyle Cummings

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>.


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