Genetic Defect Causing Fragile X-Related Disorders More Common Than Thought
[Source: Science Daily]
A single genetic defect on the X chromosome that can result in a wide array of conditions — from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men — occurs at a much greater frequency than previously thought, research led by the UC Davis MIND Institute has found.
The research is based on the first large-scale, multi-center newborn screening effort for the defect in the United States, conducted in a group of more than 14,200 male and female infants at three research university medical centers piloting a new infant screening test developed at UC Davis.
The study, “FMR1 CGG Allele Size and Prevalence Ascertained Through Newborn Screening in the United States,” was led by Flora Tassone, professor-in-residence in the Department of Biochemistry and Molecular Medicine, and was conducted using blood spots obtained from infant heel pricks as part of the normal newborn genetic screening process. It is published online Dec. 20 in the journal Genome Medicine.
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