Anticipation

Another genetic phenomenon that is not explained by Mendel's principles is anticipation, in which a genetic trait becomes more strongly expressed or is expressed at an earlier age as it is passed from generation to generation. In the early 1900s, several physicians observed that patients with moderate to severe myotonic dystrophy—an autosomal dominant muscle disorder—frequently had ancestors who were only mildly affected by the disease. These observations led to the concept of anticipation. However, the concept quickly fell out of favor with geneticists because there was no obvious mechanism to explain it; traditional genetics held that genes are passed unaltered from parents to offspring. Geneticists tended to attribute anticipation to observational bias.

The results of recent research have reestablished anticipation as a legitimate genetic phenomenon. The mutation causing myotonic dystrophy consists of an unstable region of DNA that can increase or decrease in size as the gene is passed from generation to generation, much like the gene that causes Huntington disease. The age of onset and the severity of the disease are correlated with the size of the unstable region; an increase in the size of the region through generations produces anticipation. The phenomenon has now been implicated in several genetic diseases. We will examine these interesting types of mutations in more detail in Chapter 17. __

Concepts B

Anticipation is the stronger or earlier expression of a genetic trait through succeeding generations. It is caused by an unstable region of DNA that increases or decreases in size.

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