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

NCT01995305 · Status: AVAILABLE · Type: EXPANDED_ACCESS

Last updated 2013-11-26

No results posted yet for this study

Summary

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.

Conditions

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

Interventions

GENETIC

human whole exome

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).

GENETIC

whole genomic

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.

Sponsors & Collaborators

  • Xiaofan Zhu

    lead UNKNOWN

Principal Investigators

  • Tao Cheng, professor · Institute of Hematology & Blood Diseases Hospital, China

Eligibility

Min Age
1 Month
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01995305 on ClinicalTrials.gov