Photo of keryotypes from fig 2.6
I 5.1 The gene for Huntington disease. (a) James Gusella and colleagues, whose research located the Huntington gene. (b) The gene has been mapped to the tip of chromosome 4. (Part a, Sam Ogden; part b, left courtesy of Dr. Thomas Ried and Dr. Evelin Schrock.)
""Huntington-disease gene t
--Centromere Chromosome 4
disease, Mendel's principles do not apply. Was Mendel wrong?
In 1983, a molecular geneticist at Massachusetts General Hospital named James Gusella determined that the gene causing Huntington disease is located near the tip of the short arm of chromosome 4. Gusella determined its location by analyzing DNA from members of the largest known family with Huntington disease, about 7000 people who live near Lake Maracaibo in Venezuela, more than 100 of whom have Huntington disease. Many experts predicted that, with the general location of the Huntington gene pinned down, the actual DNA sequence would be isolated within a few years. Despite intensive efforts, finding the gene took 10 years. When it was finally isolated in the spring of 1993 ( Figure 5.1), the gene turned out to be quite different from any of those that code for the traits studied by Mendel.
The mutation that causes Huntington disease consists of an unstable region of DNA capable of expanding and contracting as it is passed from generation to generation. When the region expands, Huntington disease results. The degree of expansion affects the severity and age of onset of symptoms; the juvenile form of Huntington disease results from rapid expansion of the region, which occurs primarily when the gene is transmitted from father to offspring.
This genetic phenomenon — the earlier appearance of a trait as it is passed from generation to generation—is called anticipation. Like a number of other genetic phenomena, anticipation does not adhere to Mendel's principles of heredity. This lack of adherence doesn't mean that Mendel was wrong; rather, it means that Mendel's principles are not, by themselves, sufficient to explain the inheritance of all genetic characteristics. Our modern understanding of genetics has been greatly enriched by the discovery of a number of modifications and extensions of Mendel's basic principles, which are the focus of this chapter.
An important extension of Mendel's principles of heredity—the inheritance of sex-linked characteristics —
was introduced in Chapter 4. In this chapter, we will examine a number of additional refinements of Mendel's basic tenets. We begin by reviewing the concept of dominance, emphasizing that dominance entails interactions between genes at one locus (allelic genes) and affects the way in which genes are expressed in the phenotype. Next, we consider lethal alleles and their effect on phenotypic ratios, followed by a discussion of multiple alleles. We then turn to interaction among genes at different loci (nonallelic genes). The phenotypic ratios produced by gene interaction are related to the ratios encountered in Chapter 3. In the latter part of the chapter, we will consider ways in which sex interacts with heredity. Our last stop will be a discussion of environmental influences on gene expression.
The modifications and extensions of hereditary principles discussed in this chapter do not invalidate Mendel's important contributions; rather, they enlarge our understanding of heredity by building on the framework provided by his principles of segregation and independent assortment. These modifications rarely alter the way in which the genes are inherited; rather, they affect the ways in which the genes determine the phenotype.
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