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Reverse mutations in the fragile X syndrome

✍ Scribed by Brown, W. Ted; Houck, George E.; Ding, Xiaohua; Zhong, Nan; Nolin, Sarah; Glicksman, Anne; Dobkin, Carl; Jenkins, Edmund C.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 580 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960809)64:2<287::aid-ajmg11>3.0.co;2-b

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✦ Synopsis

Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMRl repeat alleles. The changes in repeat sizes from mother to daughter was 95 to 35 in the first, 145 to 43 in the second, and 82 to 33 in the third. In the first family, mutations of the nearby microsatellites FRAXAC2 and DXS548 were also observed. In the other two, only mutations involving the FMRl repeats were found. We suggest differing mutational mechanisms such as gene conversion versus DNA replication slippage may underlie such reversions. We estimate that such revertants may occur among 1% or less of premutation carrier offspring. Our results indicate that women identified to be carriers by linkage should be retested by direct DNA analysis.

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