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Sickle Cell Anemia. Chisom Amaefuna Adeline Laurente 1/29/10 Period 2. Summary. Sickle cell anemia is a genetic blood disease due to a abnormal form of a hemoglobin. Hemoglobin is the molecule in the red blood cell that transports oxygen from lungs to the farthest parts of the body
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Sickle Cell Anemia Chisom Amaefuna Adeline Laurente 1/29/10 Period 2
Summary • Sickle cell anemia is a genetic blood disease due to a abnormal form of a hemoglobin. • Hemoglobin is the molecule in the red blood cell that transports oxygen from lungs to the farthest parts of the body • Symptoms of sickle cell anemia include: • Paleness of the skin • Weakness • Shortness of breath • Heart failure • Fact: • Couples who are both carriers have a 25% chance of giving a mutated gene to a child • Sickle cell anemia is more common in middle eastern countries, Africa, Spanish-speaking countries
Chromosomes Sickle Cell Anemia is located in CHROMOSOME 11
Inheritance of Sickle Cell Anemia -Sickle cell is inherited in an Autosomal recessive pattern. -autosomal recessive-Genetic condition that appears only in individuals who have received two copies of an autosomal Gene -The gene is on an autosome, a nonsex chromosome -People with one defective gene and one normal gene are carriers
Alleles • Alleles are another form of genes that are located on a part of the chromosomes • Humans have 2 alleles per gene because they are attached to chromosomes • Heterozygous has one dominant and one recessive allele • Homozygous has either two dominant or two recessive alleles • Heterozygous: Rr • Homozygous: RR or rr • Dominance one parent has a faulty dominant gene which overpowers the other genes and will make the child either affected or not affected, but not a carrier. • Recessive is when both parents have a normal gene and a affected one. The parents will be carriers but not affected. Their offspring however will either be affected, not affected, or a carrier.
Punnett squares S S S s S S s S s s S s S S s s
Probability of Punnett squares RATIOS PERCENTAGES 25% SS: 50% Ss: 25% ss S s S SS Ss s Ss ss
Genotype and Phenotype GENOTYPE What is in the GENES S represents dominant allele GREEN s represents recessive allele yellow SS=homozygous dominant (GREEN) Ss= heterozygous dominant (GREEN) ss= homozygous recessive (yellow) 25%: 50% : 25% Normal to carrier to affected PHENOTYPE What you can SEE SS= GREEN Ss= Green (yellow gene carrier) Ss= yellow 3:1 Normal to affected
Genotype and Phenotype Probablilty Genotype Phenotype Ratio 1SS: 2Ss: 1ss Percentage SS 25%: Ss 50%: ss 25% Ratio 3 normal: 1 affected Percentage 75% normal: 25% affected
Student Practice with Punnett Squares s s Genotype: Ratio: Percentage: Phenotype: Ratio: Percentage: S S
Pedigree KEY CIRCLE- FEMALE SQUARE- male White- normal Red-affected HALF- CARRIER
Student Practice with Pedigree 1. Why don’t any of the second generation children have full sickle cell anemia? 2. How many people in this pedigree are carriers of sickle cell anemia? 3. How many people in this pedigree show no symptoms of sickle cell anemia?