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While at WCH, Sutherland's principal focus was on chromosomal fragile sites. Large family studies of genetic diseases revealed unexpected patterns, where some men were "carriers" who did not display the disease themselves but passed it on to their daughters. This was contrary to conventional genetic wisdom: "There was no way a male could pass on an X-linked disease without having it himself, or so we thought," Sutherland said. "We'd go to medical conferences with photos of these men, photos of their businesses and copies of their university degrees to show the sceptics they were normal. They didn't believe that a male could have this genetic mutation and be OK."
The explanation was in the DNA, which Sutherland commenced mapping in detail. He found that the fragile X fault behaved differently to most genetic mutations; it builds up as it replicates through generations until it reaches a threshold where the full-blown syndrome is triggered. Such a disease mechanism, where genetic abnormalities accumulate until they reach a critical level, had not been observed before. He developed techniques to observe fragile sites, which allowed him to specify critical DNA fragments on the fragile X chromosome and led him to identify fragile X syndrome as the most common cause of hereditary intellectual disability; in Australia it affects about 60 children each year. These findings allowed him to improve diagnostic tools and techniques, making identification of carriers more reliable and ultimately improving prenatal diagnosis.
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Frederick Hecht,Grant R. Sutherland
Nature Geneticsno. 6 (2008): 776-781
Encyclopedia of Molecular Cell Biology and Molecular Medicine (2006)
Molecular Cancerno. 1 (2004): 22-22
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