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Congenital adrenal hyperplasia is a disease characterized by an enlarged adrenal gland, aldosterone and cortisol deficiency, and excess testosterone production. In humans, congenital adrenal hyperplasia occurs at a frequency of 41 in 5000 births, and is one of the most common inborn errors of metabolism. This disease results from a deficiency in one of the enzymes involved in steroidogenesis. Approximately 95% of the affected cases have been reported to be due to a defect only in the P-450(C21) gene coding for the enzyme 21 hydroxylase (Higashi et al. 1986). Higashi et al. (1986) found that three critical mutations were found in one of the two genes coding for 21-hydroxylase to render the gene nonfunctional. The following is a partial DNA sequence from one of the 21-hydroxylase genes where one of the three most common mutations occurs. For the following piece of normal DNA from the 21-hydroxylase gene, fill in the corresponding mRNA codons, and amino acids, and then do the same for the mutatec sequence below it. See Fig. 4-17 in Silverthorn for the genetic code. normal DNA sequence CTC

Congenital adrenal hyperplasia is a disease characterized by an enlarged adrenal gland, aldosterone and cortisol deficiency, and excess testosterone production. In humans, congenital adrenal hyperplasia occurs at a frequency of 41 in 5000 births, and is one of the most common inborn errors of metabolism. This disease results from a deficiency in one of the enzymes involved in steroidogenesis. Approximately 95% of the affected cases have been reported to be due to a defect only in the P-450(C21) gene coding for the enzyme 21 hydroxylase (Higashi et al. 1986). Higashi et al. (1986) found that three critical mutations were found in one of the two genes coding for 21-hydroxylase to render the gene nonfunctional. The following is a partial DNA sequence from one of the 21-hydroxylase genes where one of the three most common mutations occurs. For the following piece of normal DNA from the 21-hydroxylase gene, fill in the corresponding mRNA codons, and amino acids, and then do the same for the mutatec sequence below it. See Fig. 4-17 in Silverthorn for the genetic code. normal DNA sequence CTC

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Bookmarks People Tab Window Help O Quiz: Enzyme lab critical thinkir x Zoom Congenital adrenal hyperplasia is a disease characterized by an enlarged adrenal gland, aldosterone and cortisol deficiency, and excess testosterone production. In humans, congenital adrenal hyperplasia occurs at a frequency of 41 in 5000 births, and is one of the most common inborn errors of metabolism. This disease results from a deficiency in one of the enzymes involved in steroidogenesis. Approximately 95% of the affected cases have been reported to be due to a defect only in the P-450(C21) gene coding for the enzyme 21 hydroxylase (Higashi et al. 1986). Higashi et al. (1986) found that three critical mutations were found in one of the two genes coding for 21-hydroxylase to render the gene nonfunctional. The following is a partial DNA sequence from one of the 21-hydroxylase genes where one of the three most common mutations occurs. For the following piece of normal DNA from the 21-hydroxylase gene, fill in the corresponding mRNA codons, and amino acids, and then do the same for the mutated sequence below it. See Fig. 4-17 in Silverthorn for the genetic code. GCT GAC GTC CTC CTC normal DNA sequence normal MRNA sequence normal amino acid sequence HIGASHI, Y., H. YOSHIOKA, M. YAMANE, O. GOTOHT, & Y. Fujm-KURIYAMA. 1986. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc. Nati. Acad. Sci. 83: 2841-2845 Edit View Insert Format Tools Table 12pt v Paragraph В I 40 FEB tv W 11 MacBook Air
Transcribed Image Text:Bookmarks People Tab Window Help O Quiz: Enzyme lab critical thinkir x Zoom Congenital adrenal hyperplasia is a disease characterized by an enlarged adrenal gland, aldosterone and cortisol deficiency, and excess testosterone production. In humans, congenital adrenal hyperplasia occurs at a frequency of 41 in 5000 births, and is one of the most common inborn errors of metabolism. This disease results from a deficiency in one of the enzymes involved in steroidogenesis. Approximately 95% of the affected cases have been reported to be due to a defect only in the P-450(C21) gene coding for the enzyme 21 hydroxylase (Higashi et al. 1986). Higashi et al. (1986) found that three critical mutations were found in one of the two genes coding for 21-hydroxylase to render the gene nonfunctional. The following is a partial DNA sequence from one of the 21-hydroxylase genes where one of the three most common mutations occurs. For the following piece of normal DNA from the 21-hydroxylase gene, fill in the corresponding mRNA codons, and amino acids, and then do the same for the mutated sequence below it. See Fig. 4-17 in Silverthorn for the genetic code. GCT GAC GTC CTC CTC normal DNA sequence normal MRNA sequence normal amino acid sequence HIGASHI, Y., H. YOSHIOKA, M. YAMANE, O. GOTOHT, & Y. Fujm-KURIYAMA. 1986. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc. Nati. Acad. Sci. 83: 2841-2845 Edit View Insert Format Tools Table 12pt v Paragraph В I 40 FEB tv W 11 MacBook Air
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