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- W2366860885 abstract "Objective Rett syndrome (RTT) is a progressive neurodevelopmental disorder that almost exclusively affects girls, and is one of the most common causes of mental retardation in females, with an estimated prevalence of approximately 1 in 10 000-15 000 females. Mutations in the X linked methyl CpG binding protein 2 (MeCP2) gene, located on chromosome Xq28, have been found to be a cause of RTT. A lot of mutations have been reported in different race recently. In order to study the spectrum of mutations and to assess the guidance of MeCP2 gene hot mutations analysis for the diagnosis of RTT in China, the authors analyzed the exon 3 fragment of nt22643-nt23022 in MeCP2 gene. Methods The screening test was carried out in 23 classical sporadic patients with RTT, some of their parents and 4 normal females as controls. The patients had their onset at the age between 7 months and 3 years and were diagnosed at the age between 1 year 6 months and 5 years. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes of each person above. To look for T158M and R168X mutation, MeCP2 gene was amplified by PCR, digested by restriction enzymes HphⅠand Nla Ⅲ, respectively, electrophoresed in 6% polyacrylamide gel and stained by silver to show the bands. The mutations were confirmed by sequencing. Results T158M mutation was found in 4 of 23 RTT. And R168X mutation was found in 2 of 21 cases. Conclusion The mutations of T158M and R168X were frequently seen in patients with RTT. PCR combined with restriction enzyme test is helpful for clinical diagnosis of RTT." @default.
- W2366860885 created "2016-06-24" @default.
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- W2366860885 date "2002-01-01" @default.
- W2366860885 modified "2023-09-28" @default.
- W2366860885 title "MeCP2 gene mutational hotspots in diagnosis of Rett syndrome" @default.
- W2366860885 hasPublicationYear "2002" @default.
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