Adenike and her partner, Debare, are expecting their first child. Adenike is healthy as are her two sisters but her brother has PKU, a recessive disorder of the PAH gene. Genotypically he must be pah-/pah-. Neither of Adenike's parents has PKU but both of her grandmothers did. Debare is a carrier of Sickle Cell trait, which means he has one allele for wildtype hemoglobin (HbA) and one allele for Sickle Cell (HbS), making him HgA/HbS. More importantly, he has two alleles for Marfan Syndrome, a pleiotropic dominant disorder that can affect up to 30 different traits (M+/M+). No one in Debare's family has ever had PKU and no one in Adenike’s family has ever had Sickle Cell or Marfan Syndrome. They consult a genetics counselor over concern of the health of their baby. The genetics counselor collects the medical histories of three generations; their grandparents, their parents, and them. In her calculations, she produces a phenotypic key that indicates M = Marfan, Hb = sickle cell, and pah- = PKU. Remember that a capital letter often means a dominant condition and a lowercase letter means a recessive condition. 1) Consider M+/_ = Marfan, HbS/HbS = Sickle Cell anemia, and pah-/pah- = PKU; what does the genetics counselor think Adenike’s genotype is for Marfan and Sickle Cell considering she does not have either disorder nor has it ever appeared in any member of her family for several generations? a)m-/m- ; HbS/HbS b) M+/m-; HbA/HbS c) M+/ ; HbA/ d)M+/M+ ; HbA/HbA 2) Consider M+/_ = Marfan, HbS/HbS = Sickle Cell anemia, and pah-/pah- = PKU; what does the genetics counselor think Debare’s genotype is for Marfan, which he is homozygous for, and Sickle Cell trait, which he is heterozygous for, and PKU, which neither he nor any member of his family has ever had for several generations? a) m-/m -; HbS/HbS ; pah-/pah-. b)M+/_ ; HbA/HbS ; PAH+/PAH+. c)+/M +; HbA/HbS; PAH+/PAH+. d)M+/m- ; HbA/HbS ; PAH+/pah
Adenike and her partner, Debare, are expecting their first child. Adenike is healthy as are her two sisters but her brother has PKU, a recessive disorder of the PAH gene. Genotypically he must be pah-/pah-. Neither of Adenike's parents has PKU but both of her grandmothers did. Debare is a carrier of Sickle Cell trait, which means he has one allele for wildtype hemoglobin (HbA) and one allele for Sickle Cell (HbS), making him HgA/HbS. More importantly, he has two alleles for Marfan Syndrome, a pleiotropic dominant disorder that can affect up to 30 different traits (M+/M+). No one in Debare's family has ever had PKU and no one in Adenike’s family has ever had Sickle Cell or Marfan Syndrome. They consult a genetics counselor over concern of the health of their baby. The genetics counselor collects the medical histories of three generations; their grandparents, their parents, and them. In her calculations, she produces a
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PKU (Phenylketonuria) is an inherited metabolic disorder that affects the way the body processes the amino acid phenylalanine. People with PKU are unable to properly break down this amino acid, which can lead to a buildup of harmful substances in the body that can cause brain damage and other complications if left untreated.
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Sickle Cell Anemia is an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In people with sickle cell anemia, the red blood cells are shaped like crescents or sickles, which can lead to a number of complications such as chronic pain, organ damage, and an increased risk of infections.
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Marfan Syndrome is a genetic disorder that affects the connective tissues in the body, which provide structure and support to various organs and tissues. People with Marfan Syndrome have a defect in the fibrillin gene, which causes their connective tissues to be weaker and more elastic than normal. This can lead to a range of complications, including skeletal abnormalities, cardiovascular problems, and vision and hearing impairments.
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