CORE--APPLIED MOLECULAR BIOLOGY HEMATOLOGY

核心--应用分子生物学 血液学

• 批准号: 6667519
• 负责人: SUJIT SHETH
• 金额: $ 19.88万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-04-01 至 2003-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6667519
• 关键词: biomedical facility; blood disorder diagnosis; blood tests; cell sorting; clinical research; disease carrier state; genotype; hematology; hemoglobin Ss; human genetic material tag; human subject; molecular pathology; polymerase chain reaction; prenatal diagnosis; rapid diagnosis; sickle cell anemia

The molecular biology and hematological laboratory support to all units of the Center. Besides standard hematological and biochemical testings, it offers, by DNA analysis, precise genetic classification of all patients. The number of S genes and alpha-globin genes are enumerated and the haplotypes of the beta-globin like gene cluster are determined to define with precision the genotype of the patients. A battery of hematological parameters, including the levels of adhesion molecules reflecting endothelial damage, will be measured. These will be correlated with clinical manifestations by the statistical core unit to derive prognostic factors. This unit provides prenatal diagnosis of sickle cell diseases to all who request it. This is the largest program of prenatal diagnosis of sickle cell disease in the world. This unit will sharpen diagnostic techniques for prenatal diagnosis, such as the use of allele-specific PCR for fast diagnosis and the analysis of the Variable Number of Tandem Repeats (VNTR) to ascertain the contamination by maternal cells of chorionic villi samples. A major undertaking of this unit will be the development of techniques to obtain the prenatal diagnosis from a sample of maternal blood. This study, in cooperation with Dr. D.Bianchi at the New England Medical Center, will utilize analysis of fetal normoblasts circulating in the maternal blood. Nucleated red cells will be first concentrated by our technique of ultri- centrifugation on discontinuous gradients of arabino-galactane. Fetal cells will then be isolated by fluorescent activated sorting, using fluorescein-conjugated antibodies to cytoplasmic gamma-globin. The diagnosis will be made by PCR and the origin of the cells verified by analysis of Y-linked genes and/or by the VNTR analysis.

分子生物学和血液学实验室为各单位提供支持