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

NCT01995305 | Unknown

• 2 other identifiers: pumc001zhm001
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

fanconi anemia; hematopoiesis maintainance

Interventions

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.

Also known as: whole exome

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• All the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08/01/2010 - 07/31/2011, will be asked to participated in this study after acquiring the consent.

You may not qualify if:

• Can not acquiring content

Sponsors & Collaborators

• Xiaofan Zhu: lead

Study Sites (1)

Institute of Hematology & Blood Diseases Hospital

Tianjin, Tianjin Municipality, 300020, China

AVAILABLE

Related Links

• informatin about this study

MeSH Terms

Conditions

Fanconi Anemia; Abnormalities, Multiple

Interventions

DNA Probes; Exome Sequencing

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Congenital Abnormalities

Intervention Hierarchy (Ancestors)

Nucleic Acid Probes; Nucleic Acids; Nucleic Acids, Nucleotides, and Nucleosides; Molecular Probes; Diagnostic Uses of Chemicals; Pharmacologic Actions; Chemical Actions and Uses; Laboratory Chemicals; Specialty Uses of Chemicals; Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Tao Cheng, professor

  Institute of Hematology & Blood Diseases Hospital, China

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Xiaofan Zhu, professor

CONTACT

+86-022-23909001; zhuxiaof@yahoo.com.cn

Huimin Zeng, doctor

CONTACT

+86-022-23909197; zengpretty@yahoo.com.cn

Study Design

• Study Type: expanded access
• Sponsor Type: UNKNOWN
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: November 21, 2013
• First Posted: November 26, 2013
• Last Updated: November 26, 2013

Record last verified: 2013-11

Locations

CN (1)