By Anthony J.F. Griffiths, Susan R. Wessler, Sean B. Carroll, John Doebley
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Extra resources for An Introduction to Genetic Analysis
In 2012, advances in genomics and DNA sequencing technology (see Chapter 14) allowed new analyses proving that Weinberg’s and Haldane’s suspicions were correct and providing a very detailed picture of the origin of new mutations within families. Here is how it was accomplished. A team of geneticists in Iceland studied 78 “trios”—a family group of a mother, a father, and their child (Figure 1-16). For some families, they had data for three generations, including a child plus its parents and at least one set of grandparents.
How do genes function inside cells in a way that enables them to control different states for a trait like flower color? In 1941, Edward Tatum and George Beadle proposed that genes encode enzymes. Using bread mold (Neurospora crassa) as their experimental organism, they demonstrated that genes encode the enzymes that perform metabolic functions within cells (Figure 1-7). In the case of the pea plant, there is a gene that encodes an enzyme required to make the purple pigment in the cells of a flower.
In several cases, the DNA data for the child and parents also allowed the researchers to identify specific new mutations in genes that likely caused the disorder. For example, one child with autism inherited a new mutation in the EPH receptor B2 (EPHB2) gene that functions in the nervous system and in which a mutation had previously been found in an autistic child. Studies such as this can have important implications for individuals and society. Some men who intend to delay parenting until later in life might choose to freeze samples of their sperm while still young.