What question did this study set out to answer?

To develop a convenient, efficient, and semiautomated protocol for screening large numbers of DNA samples for more than 20 cystic fibrosis-causing mutations.

January 1, 1994Human Mutation

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis

View Full Paper

Ask AI

Bookmark

Authors

JDJ DemarchiAllegheny College CRC. Sue RichardsOregon Health & Science University RFRaymond G. FenwickQuest Diagnostics (United States)

Discussion

Member takes

Implication

Methodological study demonstrates high-throughput cystic fibrosis mutation screening using robotics and hybridization, suggesting broad utility across genetic diagnostic assays.

Key Points

To develop a convenient, efficient, and semiautomated protocol for screening large numbers of DNA samples for more than 20 cystic fibrosis-causing mutations.
Utilized a programmable robotic workstation to execute rapid liquid pipetting and dot-blotting tasks.
Implemented allele-specific oligonucleotide hybridization performed in a single water bath without adjustments for oligonucleotide G+C content.
Applied a combinatorial screening matrix to directly resolve genotypes for high-frequency mutations.
The semiautomated protocol was routinely implemented over a 16-month period for carrier detection and clinical diagnosis of cystic fibrosis.
The workflow accommodates testing for multiple alleles at a single locus or varied alleles across multiple loci without requiring assay-specific temperature optimization.

Cite This Study

Demarchi et al. (1994) studied this question.

synapsesocial.com/papers/6a708c686ceb2bbd16dfedf8 https://doi.org/10.1002/humu.1380040409

View Full Paper

Ask AI

Bookmark

Implication

Methodological study demonstrates high-throughput cystic fibrosis mutation screening using robotics and hybridization, suggesting broad utility across genetic diagnostic assays.

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis

Discussion

Member takes

Implication

Key Points

Cite This Study

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider