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
|Condition or disease||Intervention/treatment|
|Fanconi Anemia Autosomal or Sex Linked Recessive Genetic Disease Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. Hematopoiesis Maintainance.||Genetic: human whole exome Genetic: whole genomic|
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|
|Official Title:||Exome Sequencing of Fanconi Anemia Children and the Their Parents|
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01995305
|Contact: Xiaofan Zhu, firstname.lastname@example.org|
|Contact: Huimin Zeng, email@example.com|
|Institute of Hematology & Blood Diseases Hospital||Available|
|Tianjin, Tianjin, China, 300020|
|Contact: Xiaofan Zhu, professor +86-022-23909001 firstname.lastname@example.org|
|Principal Investigator: Xiaofan Zhu, professor|
|Principal Investigator:||Tao Cheng, professor||Institute of Hematology & Blood Diseases Hospital|