The following table shows neutral polymorphisms found in control families (those with no increased frequency of breast and ovarian cancer).
Neutral Polymorphisms in BRCA1
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| Frequency in Control | Chromosomes* | ||
Name | Codon Location | Base in Codon† | A | C | G | T |
PM1 | 317 | 2 | 152 | 0 | 10 | 0 |
PM6 | 878 | 2 | 0 | 55 | 0 | 100 |
PM7 | 1190 | 2 | 109 | 0 | 53 | 0 |
PM2 | 1443 | 3 | 0 | 115 | 0 | 58 |
PM3 | 1619 | 1 | 116 | 0 | 52 | 0 |
*The number of chromosomes with a particular base at the indicated polymorphic site (A, C, G, or T) is shown.
†Position 1, 2, or 3 of the codon.
Examine the data in the table and answer the following questions:
(a) What is meant by a neutral polymorphism?
(b) What is the significance of this table in the context of examining a family or population for BRCA1 mutations that predispose an individual to cancer?
(c) Is the PM2 polymorphism likely to result in a neutral mis-sense mutation or a silent mutation?
(d) Answer part (c) for the PM3 polymorphism.
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