Essentials of Genetics (9th Edition) - Standalone book
Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 14, Problem 3CS

CASE STUDY|Genetic dwarfism

Seven months pregnant, an expectant mother was undergoing a routine ultrasound. While prior tests had been normal, this one showed that the limbs of the fetus were unusually short. The doctor suspected that the baby might have a genetic form of dwarfism called achondroplasia. He told her that the disorder was due to an autosomal dominant mutation and occurred with a frequency of about 1 in 25,000 births. The expectant mother had studied genetics in college and immediately raised several questions. How would you answer them?

If this child has achondroplasia, is there an increased chance that their next child would also have this disorder?

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Sickle cell disease— what is the background of this disorder: include the name of the disorder, any alternate names used, provide a description of the disorder, and the typical age of onset. What is the Type of genetic disorder: explain if and how this disorder is inherited. Explain the genetic causes of the disorder. Is it inherited? Is the disorder a dominant or recessive trait? Which chromosome is affected in this disorder? Is a gene mutated? If so, name the gene that is affected? How is gene expression impacted (is it a particular type of mutation, a case of a misshapen protein, etc.?)
I. Give the chromosome number and chromosome configuration if the following mutations occurred in rice, a diploid organism wherein the number of chromosomes per set is 12. 1. Trisomy-11 2. Double Monosomy 3. Triploidy 4. Nullisomy-12 5. Tetraploid II. Give the chromosome number for the following: 6. 311+ 21 7. 4||+3||| 8. 2n=4 treated with colchicine to produce an autotetraploid 9. Monoploid maize (2n=20) 10, 51|^+ 51|B
Fragile X syndrome why is interesting Fragile X syndrome  What are the symptoms or characteristics of this disorder or trait?  What is the prevalence of the trait or disorder? What are the main genetic factors? s the genetic cause of this disorder or trait known? What gene(s) have been proven to be involved? Or, if not known, what genes are thought to be involved? Is it caused by a single gene? polygenic? Multifactorial? Devote a few paragraphs to this   This could be one of the longest parts of the paper, if you choose to focus on this. If multiple genes are thought to be involved, discuss the specific role of at least one of them in depth  (if known). Is the gene you’re discussing thought to play a major or a minor role in the phenotype? What chromosome is it on? What protein does it code for, and how might the protein possibly contribute to the phenotype? If no genes have yet been identified, indicate this, and devote at least one paragraph to any current efforts to determine which…

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Essentials of Genetics (9th Edition) - Standalone book

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY