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  • fmr1 cgg allele size and prevalence ascertained through newborn screening in the united states

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    • تاریخ ارائه: 1392/07/24
    • تاریخ انتشار در تی پی بین: 1392/07/24
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    background: population screening for fmr1 mutations has been a topic of considerable discussion since the fmr1gene was identified in 1991. advances in understanding the molecular basis of fragile x syndrome (fxs) and ingenetic testing methods have led to new, less expensive methodology to use for large screening endeavors. a core criterion for newborn screening is an accurate understanding of the public health burden of a disease,considering both disease severity and prevalence rate. this article addresses this need by reporting prevalencerates observed in a pilot newborn screening study for fxs in the us. methods: blood spot screening of 14,207 newborns (7,312 males and 6,895 females) was conducted in threebirthing hospitals across the united states beginning in november 2008, using a pcr-based approach. results: the prevalence of gray zone alleles was 1:66 females and 1:112 males, while the prevalence of apremutation was 1:209 females and 1:430 males. differences in prevalence rates were observed among the variousethnic groups; specifically higher frequency for gray zone alleles in males was observed in the white groupcompared to the hispanic and african-american groups. one full mutation male was identified (>200 cgg repeats). conclusions: the presented pilot study shows that newborn screening in fragile x is technically feasible andprovides overall prevalence of the premutation and gray zone alleles in the usa, suggesting that the prevalence ofthe premutation, particularly in males, is higher than has been previously reported. 

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