Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. The FraX gene (FMR1) has been cloned, and the mutation causing the disease is now known. We estimated the effect of FraX on dental development in 28 affected boys (aged 4.9-17.6 years) and three carrier girls (aged 5
Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians
β Scribed by Zhong, Nan; Ju, Weina; Xu, Weimin; Ye, Lingling; Shen, Yan; Wu, Guangyun; Chen, Shi-han; Jin, Runming; Hu, Xiao-feng; Yang, Aide; Liu, Xixian; Poon, Priscilla; Pang, Calvin; Zheng, Yu; Song, Li; Zhao, Pei; Fu, Bojing; Gu, Hongjuan; Brown, W. Ted
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 17 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990528)84:3<191::aid-ajmg3>3.0.co;2-8
No coin nor oath required. For personal study only.
β¦ Synopsis
Fragile X syndrome is recognized as the most common inherited cause of mental retardation in western countries. The prevalence of the fragile X syndrome in Asian populations is uncertain. We report a multi-institutional collaborative study of molecular screening for the fragile X syndrome from 1,127 Chinese mentally retarded (MR) individuals. We found that 2.8% of the Chinese MR population screened by DNA analysis had the fragile X full mutation. Our screening indicated that the fragile X syndrome prevalence was very close to that of Caucasian subjects. In addition, we found that 62.5% of fragile X chromosomes had a single haplotype for DXS548-FRAXAC1 (21-18 repeats) which was present in only 9.7% of controls. This unique distribution of microsatellite markers flanking the FMR1 CGG repeats suggests that the fragile X syndrome in Chinese populations, as in the Caucasian, may also be derived from founder chromosomes.
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Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation. The syndrome is caused by a CGG-expansion mutation in the gene FMR-1, located at Xq27.3. The morphologic anomalies in this syndrome can be subtle: elongated face, large ears, and macro-orchidism. More striking is the
The fragile X syndrome of mental retardation is related to the number of trinucleotide CGG repeats at the 5-untranslated region of the FMR1 gene located on the X-chromosome. We have studied X-chromosomes from 649 unaffected Chinese subjects and 324 patients with mild mental retardation. All study su
In order to investigate the origin of the fragile X mutation in the Brazilian population, we assessed the size of the microsatellite markers DXS548, FRAXAC1 and FRAXAC2 in 72 X chromosomes from unrelated affected males and 64 control chromosomes. We found a significantly different distribution of al
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