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 11, Problem 2CS
Summary Introduction

Case Summary:

A geneticist student noticed a newborn baby with some abnormalities in a painting during her visit to a museum and wondering whether this condition is a genetic disorder. After searching online, she learned that baby might be having RBS (Roberts syndrome) in which mitotic errors occur. These errors include the premature separation of the centromeres and other heterochromatic regions of homologs in metaphase instead of anaphase. RBS is caused by the ESCO2 gene’s mutant alleles that functions during cell division.

Characters in the case:

A geneticist student, a painting showing a woman (mother) and a newborn baby with some abnormalities.

Adequate information:

A newborn baby is having short arms and legs with some facial abnormalities.

To determine:

The role of the protein encoded by the ESCO2 and its affect after mutation.

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*Example 2: Tracing the path of an autosomal dominant trait Trait: Neurofibromatosis Forms of the trait: The dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness. Some tumors can convert to a cancerous form. i The recessive form is a normal protein - in other words, no neurofibromatosis.moovi A typical pedigree for a family that carries neurofibromatosis is shown below. Note that carriers are not indicated with half-colored shapes in this chart. Use the letter "N" to indicate the dominant neurofibromatosis allele, and the letter "n" for the normal allele. Nn nn nn 2 nn Nn A 3 N-
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