Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 19, Problem 18QP
Summary Introduction

To determine: The founder principle in case of Ashkenazi Jewish Women infected by BRCA1 gene.

Introduction: The concept of founder effect was initially given by Ernst Mayr in the year 1942. The BRCA1 gene is a gene that is responsible for causing breast cancer in women.

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33 As 33 As Light skin pigmentation Cholera Arsenic-rich Cold Elevation Short Lactose tolerance Marine Malaria diet resistance resistance environment climate stature EVOLUTION 4e, Figure 6.28 2017 Sinauer Associates, Inc. c) Recently, scientists have identified a mutation that is found at high frequency in Finnish populations, located in northern Europe where the winter is very cold. This mutation is believed to be a "cold sensitive" allele that warns people of extreme cold temperatures. Could this allele have undergone a "selective sweep", if it had suddenly appeared in this northern population of humans? How would such a selective sweep be detected with genome data?
Human Genome ProjectIn 2003, the Human Genome Project was successfully completed, determining the exact sequence of the entire human genome, which is made up of 3 billion nucleotide base pairs. The data generated from the Human Genome Project is freely available online to anyone. Many pieces of research and innovations stemmed from the HGP, allowing the identifications of 1 800 disease genes. Many of the corporations using the results from the HGP are privately funded, and research is being done for profit even though the HGP results are provided freely. Identify one advantage and one disadvantage of corporate funding and patenting genetic research results.
The use of nucleotide sequence data to measure genetic variabilityis complicated by the fact that the genes of many eukaryotesare complex in organization and contain 5' and 3' flankingregions as well as introns. Researchers have compared thenucleotide sequence of two cloned alleles of the y-globin gene from asingle individual and found a variation of 1 percent. Those differencesinclude 13 substitutions of one nucleotide for anotherand three short DNA segments that have been inserted in oneallele or deleted in the other. None of the changes takes placein the gene’s exons (coding regions). Why do you think this isso, and should it change our concept of genetic variation?
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY