期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
卷 159B, 期 5, 页码 589-597出版社
WILEY
DOI: 10.1002/ajmg.b.32065
关键词
FMR1 premutation and gray zone CGG expansions; prevalence
资金
- Centers for Disease Control and Prevention through the Association of University Centers on Disability
- Wisconsin Longitudinal Study [P01 AG021079]
- Waisman IDDRC [P30 HD03352]
The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the gray zone using a population-based sample of older adults in Wisconsin (n?=?6,747 samples screened). Compared with past research, prevalence was relatively high (1 in 151 females and 1 in 468 males for the premutation and 1 in 35 females and 1 in 42 males for the gray zone as defined by 4554 CGG repeats). A secondary study goal was to describe characteristics of individuals found to have the premutation (n?=?30, 7 males and 23 females). We found that premutation carriers had a significantly higher rate of divorce than controls, as well as higher rates of symptoms that might be indicative of fragile X-associated tremor ataxia syndrome (FXTAS; numbness, dizziness/faintness) and fragile X primary ovarian insufficiency (FXPOI; age at last menstrual period). Although not statistically significant, premutation carriers were twice as likely to have a child with disability. (C) 2012 Wiley Periodicals, Inc.
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