Biology
Biology
4th Edition
ISBN: 9781259188121
Author: Peter Stiling, Robert Brooker, Linda Graham, Eric Widmaier
Publisher: McGraw-Hill Education
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Chapter 16.3, Problem 2CC
Summary Introduction

To determine:

The observation in a pedigree analysis that suggests a dominant pattern of inheritance.

Introduction:

For understanding the inheritance pattern of human genetic diseases “Pedigree analysis” is considered the most effective tool and it follows a simple Mendelian pattern. Depending upon the characteristics of dominant and recessive disorders, the transmission of a disorder could be predicted through the pedigree.

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Working with the definitions of penetrance and expressivity, analyze the following pedigree and assume that the father of the proband is homozygous for a rare trait. (Consider a rare trait here to be less than 1 in 30,000.) What pattern of inheritance other than autosomal recessive could explain this pedigree? In particular, explain the genotype and phenotype of the proband (arrow).
Single gene Mendelian inheritance patterns: if you are told the phenotype of the parents and whether  the trait is dominant or recessive etc, be able to predict the genotype of the children.  If you are told the  phenotype of the parent as well as the inheritance pattern, be able to predict the parent’s genotype.   Be able to set up and use a Punnett square to solve problems and make predictions.        Be able to explain the major steps in how information from our genes is used to make proteins.  Or to  show it in a labeled diagram.  Be able to explain whatis transcription, translation.  Where in the cell do these processes occur? In  what order?  What type of molecules are being made [DNA, RNA, protein]? What are their building  blocks?  What is a mutation? How can a mutation in DNA cause a change in a protein? (use the following terms  to answer:  codon, transcription, translation, mRNA).      What is gene expression? Why is regulation of gene expression important for normal…
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