Celera Diagnostics says its assay detects carriers of fragile X

By E. Janene Geiss

Philadelphia, Nov. 11 - Celera Diagnostics announced Friday that data from its fragile X research assay shows results for amplification of normal and pre-mutation triplet repeats in the FMR1 (fragile X mental retardation) gene and sizing them on the ABI Prism 3100 and 3130 Genetic Analyzers. Also included is amplification of a novel gender gene that can be used to determine whether females have two normal copies of the repeats.

"This research assay is a more efficient PCR method for detecting fragile X carriers compared to current procedures, and is a major advancement in the field," Michael Zoccoli, vice president of development, said in the release.

"The data demonstrate the potential of this approach for population screening for fragile X similar to screening practices for cystic fibrosis," Zoccoli said.

Fragile X syndrome is the most common cause of inherited mental retardation. The mutation in 99% of cases is expansion in the X chromosome of the CGG (cytosine-guanine-guanine) triplet repeat in the FMR1 gene, which can be categorized into four classes based on the size of the repeat: normal (5-44 repeats), intermediate-gray zone (45-54 repeats), pre-mutation (55-200 repeats) and full mutation (greater than 200 repeats).

According to a company news release, pre-mutation repeats may expand to full mutations in the next generation. Females that have either a pre-mutation or full mutation repeat length alleles are carriers. Males that inherit a full mutation repeat allele exhibit developmental disabilities.

Celera said its fragile X research assay is a PCR assay that co-amplifies a novel gender-specific gene simultaneously with triplet repeats up to 645 units, and sizes repeats up to 230 units on ABI Prism 3100 and 3130 Genetic Analyzers. This research assay was developed as part of Celera's alliance with Abbott Laboratories, and is currently being evaluated externally, officials said.

The company said it is presenting the data at the Association of Molecular Pathology's annual meeting on Nov. 11 to Nov. 13.

Alameda, Calif.-based Celera, a 50/50 joint venture between Applied Biosystems and Celera Genomics, is focused on the development and commercialization of diagnostic products.

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