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Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay

✍ Scribed by Daly, Thomas M.; Rafii, Arash; Martin, Rick A.; Zehnbauer, Barbara A.


Book ID
122822059
Publisher
American Society for Investigative Pathology
Year
2000
Tongue
English
Weight
304 KB
Volume
2
Category
Article
ISSN
1525-1578

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Deletion in the FMR1 gene in a fragile-X
✍ Mannermaa, Arto; Pulkkinen, Leena; Kajanoja, Eliisa; Ryynänen, Markku; Saarikosk 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 298 KB 👁 2 views

The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMRl gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMRl gene. While this is usually the case, some suspect