EBK LIFE: THE SCIENCE OF BIOLOGY
11th Edition
ISBN: 8220103935432
Author: Sadava
Publisher: MAC HIGHER
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Chapter 15.3, Problem 1R
Summary Introduction
To determine:
Whether the brother of a newborn baby, who is affected by cystic fibrosis, is a carrier of this disease.
Introduction:
Cystic fibrosis is a type of autosomal recessive disease. In this disease, thick mucus is produced in lung and airway and the liver, pancreas, kidney, and intestine also get affected. The gene, which is responsible for the disease normally codes for 1,480 amino acids and the mutant gene codes for 1,479 amino acids. Only one amino acid that is phenylalanine is not produced. The baby who is suffering from cystic fibrosis has an older brother. To detect whether his brother is a carrier or not polymerase chain reaction (PCR) technique can be used.
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The protein known as tyrosinase is needed to make certain types of pigments. Tyrosinase is composed of a single polypeptide with 511amino acids. The molecular mass of this protein is approximately61,300 Da, or 61.3 kDa. People who carry two defective copies ofthe tyrosinase gene have the condition known as albinism. They areunable to make pigment in the skin, eyes, and hair. Western blottingis used to detect proteins that are translated from a particularmRNA. This method is described in Chapter 20 and also in experimentalquestion E4. Skin samples were collected from a pigmentedindividual (lane 1) and from three unrelated albino individuals(lanes 2, 3, and 4) and subjected to a Western blot analysis using anantibody that recognizes tyrosinase.
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Phenylketonuria (PKU) is a genetic disorder that causes the abnormal metabolism of the amino acid called phenylalanine. PKU is an autosomal recessive disease due to a mutation in the gene encoding the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) usually converts excess phenylalanine into tyrosine. In persons with PKU, the remaining phenylalanine is instead converted into phenylpyruvate (also known as phenylketone). This results in a poisonous build-up of phenylketone in the blood and urine that is why it is called phenylketonuria. When PKU is untreated, it can lead to brain damage, mental retardation and other serious medical problems. Babies with PKU are normal at birth due to the mother’s ability to break down phenylalanine during pregnancy. PKU can be diagnosed through a simple blood test for elevated phenylalanine levels shortly after birth.Answer the following questions:1. What is phenylketonuria (PKU)? How important is the synthesis of correct proteins?2. How…
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EBK LIFE: THE SCIENCE OF BIOLOGY
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