Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection
✍ Scribed by Dobkin, Carl; Ding, Xiao-Hua; Li, Shu-Yun; Houck, George; Nolin, Sarah L.; Glicksman, Anne; Zhong, Nan; Jenkins, Edmund C.; Brown, W. Ted
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 14 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification of the full FMR1 mutation, standard Southern blot determination of this pattern requires significantly more genomic DNA than is initially available from a prenatal sample. To overcome this limitation we developed a method that determines the diagnostic pattern of genomic restriction fragments from a fraction of a prenatal specimen. The prenatal DNA sample is first digested with EcoRI and EagI, and after agarose gel electrophoresis, the 2-to 10-kb region of the gel is serially sectioned and amplified by polymerase chain reaction. Analysis of prenatal samples from an unaffected male and from a full mutation male showed that this approach generated a diagnostic pattern comparable with a Southern blot of 100-fold more material. This innovation enables laboratories to prenatally diagnose the full FMR1 mutation sooner than standard techniques. Am. J.