2. Sickle-cell anemia is a genetic disorder caused by the abnormal gene for hemoglobin S. A single substitution oc- curs in which glutamic acid is substituted for valine in the sixth position of the hemoglobin molecule. This change reduces hemoglobin's ability to carry oxygen. a. Discuss the process by which mutation occurs in base substitution. b. Biologists used gel electrophoresis to initially identify the mutant gene. Explain how gel electrophoresis could be applied to the identification of the gene mutation. Discuss the use of restriction enzymes. c. Hemoglobin S is transmitted as a simple Mendelian allele. Describe the outcome if a female who does not carry the abnormal allele mates with a male homozygous for the disease. Include a Punnett square and pheno- typic and genotypic ratios.

Human Anatomy & Physiology (11th Edition)
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2. Sickle-cell anemia is a genetic disorder caused by the abnormal gene for hemoglobin S. A single substitution oc-
curs in which glutamic acid is substituted for valine in the sixth position of the hemoglobin molecule. This change
reduces hemoglobin's ability to carry oxygen.
a.
Discuss the process by which mutation occurs in base substitution.
b. Biologists used gel electrophoresis to initially identify the mutant gene. Explain how gel electrophoresis could
be applied to the identification of the gene mutation. Discuss the use of restriction
enzymes.
c. Hemoglobin S is transmitted as a simple Mendelian allele. Describe the outcome if a female who does not
carry the abnormal allele mates with a male homozygous for the disease. Include a Punnett square and pheno-
typic and genotypic ratios.
Transcribed Image Text:2. Sickle-cell anemia is a genetic disorder caused by the abnormal gene for hemoglobin S. A single substitution oc- curs in which glutamic acid is substituted for valine in the sixth position of the hemoglobin molecule. This change reduces hemoglobin's ability to carry oxygen. a. Discuss the process by which mutation occurs in base substitution. b. Biologists used gel electrophoresis to initially identify the mutant gene. Explain how gel electrophoresis could be applied to the identification of the gene mutation. Discuss the use of restriction enzymes. c. Hemoglobin S is transmitted as a simple Mendelian allele. Describe the outcome if a female who does not carry the abnormal allele mates with a male homozygous for the disease. Include a Punnett square and pheno- typic and genotypic ratios.
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