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Screening for Genes in Patients With Congenital Neutropenia

2016-08-16 10:08:21 | BioPortfolio

Summary

Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.

The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Conditions

Congenital Neutropenia

Intervention

High-throughput exome sequencing

Location

CHU Dijon Bourgogne
Dijon
France
21079

Status

Completed

Source

Centre Hospitalier Universitaire Dijon

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-08-16T10:08:21-0400

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Medical and Biotech [MESH] Definitions

Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.

Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

A hematopoietic growth factor which promotes proliferation and maturation of neutrophil granulocytes. Clinically it is effective in decreasing the incidence of febrile neutropenia in patients with non-myeloid malignancies receiving myelosuppressive therapy or in reducing the duration of neutropenia and neutropenia-related clinical sequelae in patients with non-myeloid malignancies undergoing myeloblastive chemotherapy followed by BMT. It has also been used in AIDS patients with CMV retinitis being treated with GANCICLOVIR. (Gelman CR, Rumack BH & Hess AJ (eds): DRUGDEX(R) System. MICROMEDEX, Inc., Englewood, Colorado (Edition expires 11/30/95))

Rapid methods of measuring the effects of an agent in a biological or chemical assay. The assay usually involves some form of automation or a way to conduct multiple assays at the same time using sample arrays.

Large collections of small molecules (molecular weight about 600 or less), of similar or diverse nature which are used for high-throughput screening analysis of the gene function, protein interaction, cellular processing, biochemical pathways, or other chemical interactions.

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