Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

Article Abstract:

Prevalence and phenotype consequence of fragile X (FRAXA) syndrome and fragile XE (FRAXE) alleles have been studied in a large, ethnically diverse, special education-needs (SEN) population in order to estimate prevalence among whites and African Americans in a nonclinically referred population. In the 1,979 tested males there were 5, 4 white, 1 African American, with FRAXA syndrome. In 872 tested females none was found.The FRAXA syndrome prevalence was estimated at 1/3,460 for the general white male population and 1/4,048 for the general African American male population. Frequency of intermediate and premutation FRAXA alleles and fragile XE syndrome alleles in the SEN population was compared with that in a control population. No difference was seen between the case and control populations. It seems there is not a phenotype consequence of larger alleles that would put carriers in a SEN class.

Statistics, Fragile X syndrome, Population genetics, Mentally disabled persons, Ethnology, African American men, White men, Cultural anthropology

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Search for a founder mutation in idiopathic focal dystonia from northern Germany

Article Abstract:

A search for a northern Germany founder mutation in idiopathic focal dystonia is discussed. The role of some loci implicated by those discoveries and others related to chromosome 18 was evaluated by testing of 85 primary focal dystonia patients of the region. Most cases in the area come from neither a GAG deletion in DYT1 (ital) nor to a proposed founder mutation on chromosome 18p.

Europe, Germany, Statistical Data Included, Dystonia

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