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

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ClinicalTrials.gov Identifier: NCT01995305
Expanded Access Status : Available
First Posted : November 26, 2013
Last Update Posted : November 26, 2013
Sponsor:
Information provided by (Responsible Party):
Xiaofan Zhu, Chinese Academy of Medical Sciences

Tracking Information
First Submitted Date November 21, 2013
First Posted Date November 26, 2013
Last Update Posted Date November 26, 2013
 
Descriptive Information
Brief Title Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Brief 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.
Detailed Description

Heterogeneity of FA. In the research of animal model, the phenotypes of FANCA, FANCC and FANCG knockout mice are similar. They grow up and develop normally, without any severe blood disease or tumor. However, they show chromosome instablity and highly sensitivity to MMC. And they have gonadal dysfunction and fertility defects. From this we conclude that the severe physical deformity of FA patients might be induced by other mutations. By comparing among the FA patients and between FA patiens and normal people, we look forward to find the mutated genes and verify their relationship with the physical deformity.

Even in 90% of FA patients the bone marrow failure will eventually occur, but the starting age ranges from 8-84. And Immuno-inhibition therapy has no effects on FA. Other DNA repair dysfunction diseases have higher rate of tumor, but not so high rate of bone marrow failure as FA does, which implies that the FA protein has the key role in hematopoietic stem cell maintainance. In FancC-/- mice, young mice is insensitive to DNA crosslinks with comet assay, but not adult mice, indicating that the accumulation of DNA damage during time leads to DNA repairment defects. 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.
Study Type Expanded Access
Intervention
  • 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.
    Other Name: whole exome
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Expanded Access Status Available
Contacts
Contact: Xiaofan Zhu, professor +86-022-23909001 zhuxiaof@yahoo.com.cn
Contact: Huimin Zeng, doctor +86-022-23909197 zengpretty@yahoo.com.cn
Listed Location Countries China
Removed Location Countries  
 
Administrative Information
NCT Number NCT01995305
Current Responsible Party Xiaofan Zhu, Chinese Academy of Medical Sciences
Original Responsible Party Same as current
Current Study Sponsor Xiaofan Zhu
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Principal Investigator: Tao Cheng, professor Institute of Hematology & Blood Diseases Hospital, China
PRS Account ChineseAMS
Verification Date November 2013