By: Andrew Novoa and Thea DeGuzman 2/1/10 Per. 3 Sickle Cell By: Andrew Novoa and Thea DeGuzman 2/1/10 Per. 3

Summary Of Genetic Disorder What is the disorder? - An inherited genetic disorder of defective hemoglobin - When red blood cells form curved or sickle shapes - Tissue is damage and pain can be severe. Symptoms 1.family members also have sickle cell 2. fatigue, breathlessness, rapid heart rate, 3.delayed growth and puberty, susceptibility to infections, 4.Bloody urination, excessive thirst, excessive penis pain, 5.Priapism, chest pain and decreased fertility. Interesting facts -In the United States sickle cell is more common in African Americans. - About 70,000 Americans have sickle cell disease and another 2 million have sickle cell trait. -sickle cell disease is the most common inherited blood disorder.

Chromosome affected Chromosome 11

Mode of Inheritance Sickle cell disease is an inherited condition. Two genes for the sickle hemoglobin must be inherited from one's parents in order to have the disease. A person who receives a gene for sickle cell disease from one parent and a normal gene from the other has a condition called "sickle cell trait". Sickle cell trait produces no symptoms or problems for most people. - Autosomal recessive is when you need two of the bad gene to get the disorder.

Alleles for sickle cell People have 2 alleles for the hemoglobin and hemoglobin has two parts to it, an alpha and a beta. Sickle cell is when a mutation in the beta subunit that codes for hemoglobin protein. -The Chromosome comes from you parents that carry the disorder and pass it to you. -Dominant-upper case letter Recessive- lower case letter -Dominant trait is the trait that overpowers the recessive trait.

Punnett square S s s s S SS Ss ss Ss S s S s s Ss ss S s

SS Ss ss S s S s Probability Ratios Homozygous Dominant 1GG Heterozygous Dominant 2Gg Homozygous recessive 1gg Percentages 25%GG 50% 25%gg S s SS Ss ss S s

Punnett Squares S s SS Ss ss S s Meaning of Letters Big S represents dominant allele so little s represents the recessive allele. Phenotype SS Normal Ss carrier ss affected Genotype SS is homozygous dominant (Normal) Ss is Heterozygous dominant (carrier) ss is Homozygous recessive (affected) SS Ss ss S s

Punnett square Model s S SS Ss ss S s Phenotype Ratios 3 not affected 1 affected Percentages 75% Not affected 25% affected Genotypes Ratios 1-SS, 2-Ss, 1-gg 25%-GG, 50%-Gg, 25%-gg SS Ss ss S s

Ss s s ss S s Student Practice Heterozygous Dominant Homozygous recessive Genotypes: Ss ss S Ratio: Heterozygous Dominant 2-Gg Homozygous recessive 2-gg Percentages: Heterozygous Dominant 50% Gg Homozygous recessive 50% gg s Phenotype: Carrier or affected Ratio: Carrier 2, affected 2 Percentages: Carrier 50%, affected 50%

Autosomal Recessive Dad Mom Son Son Daughter Husband Wife granddaughter granddaughter grandson granddaughter Blue-Normal Half red and blue-Carrier Red- affected

Student Practice Sally Mike Key Circle–Female Square-Male Green-Normal Half and Half-carrier Red-affected Jeff Matt Sam Anthony Emma Will Chris Emily Alex 1. If will would get married to someone who is a carrier sickle cell what is the percentage for one of the kids to be affected by sickle cell? 2.If Emily has two kids with someone who does not have sickle cell trait what will the kids be? 3. If Emma had married someone who was a carrier of sickle what would be the most common trait/traits for her kids?

Answers 1. Trick question no one would be affected they would be a carrier or normal. 2. All the kids would be carriers of sickle cell but would not be affected. 3. The most common would be affected or carrier.