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
Haplotype analysis of the fragile X syndrome geneFMR1 in the Czech Republic
✍ Scribed by Pekar�k, Vladim�r; Blazkov�, Michaela; Koz�k, Libor
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 5 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990528)84:3<214::aid-ajmg9>3.0.co;2-a
No coin nor oath required. For personal study only.
✦ Synopsis
We report on the haplotype analysis with polymorphic repeat markers DXS548 and FRAXAC1 next to the FMR1 gene in 37 unrelated fragile X and 36 control chromosomes from Bohemia and Moravia. Our results suggest a significant linkage disequilibrium between fragile X mutations and certain DXS548-FRAXAC1 haplotypes. Allele frequencies obtained differ slightly from those of other European populations with allele 194 being less frequent in our control sample. Rare DXS548 alleles 6.5 (195) and 0 (208) were also present. Am.
📜 SIMILAR VOLUMES
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
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
This is the first report that details an association between fragile X syndrome (FXS) and selective mutism (SM). This 12-year-old girl with heterozygous full mutation at FMR1 has a long history of social anxiety and shyness in addition to SM. Her sister also has the full mutation and a history of SM
We describe a follow-up of a study of behavior and emotional problems in a cohort of young people with Fragile X syndrome over 7 years. The study demonstrates that there is substantial persistence of the overall level of behavior and emotional problems. However, there are changes in certain types of