Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

ConditionsFanconi Anemia Autosomal or Sex Linked Recessive Genetic Disease Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.Hematopoiesis Maintainance.

Trial statusAvailable

Trial phaseNot listed

Trial typeExpanded Access

Biological sexAll

Age1-18

SponsorXiaofan Zhu

About this trial

Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

None

Disqualifiers

None

Trial design

Treatments tested in this trial

human whole exome
Genetic
he exome is the part of the genome formed by exons, coding portions of genes in the genome that are used in the synthesis of proteins, therefore, it is most likely to contribute to the phenotype of an organism. The exome of the human genome, is estimated to comprise 1.5% of the total genome (The human exome is about 30 MB).
whole genomic
Genetic
This study propose to find the genes that are sensitive to DNA crosslink repair, and genes that have key roles in hematopoietic cell development and maturation.

Treatment groups

No treatment groups listed

Trial outcomes

This trial has no outcomes listed.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Xiaofan Zhu

Lead sponsor

Chinese Academy of Medical Sciences

Sponsor institution

Source ClinicalTrials.gov

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