A Rapid Method for HLA-typing by Haplotyping

描述（由申请人提供）：人类白细胞抗原（HLA）的鉴定，用于肾脏和骨髓供体和受体的匹配，是移植的强制性要求。许多等位基因组合无法解决目前的分型方法。单倍型特异性提取，HSE，从单个患者样本中建立单倍型，并允许在不了解家族信息的情况下进行明确的分型。本文的目标是将HSE发展为：1)提高HLA分型的可靠方法。2)为研究人员研究HLA和疾病的意义提供了有力的工具。

DESCRIPTION (provided by applicant): Identification of Human Leukocyte Antigens, HLA, for matching of kidney and bone marrow donors and recipients is mandatory for transplantation. Many allele combinations fail to be resolved with current typing methods. Haplotype-Specific Extraction, HSE, establishes haplotypes from an individual patient's sample, and permits the unambiguous typing without knowledge of familial information. It is the goal of the proposed work to develop HSE into: 1) a reliable method to improve HLA typing. 2) a powerful tool for researchers studying the implications of HLA and disease. During Phase I, HSE was developed for HLA-B. There are currently 498 HLA-B alleles identified with 1068 ambiguous allele combinations. The use of HSE for separation of HLA-B alleles into haploid components was successfully demonstrated in nine HLA laboratories. A preliminary product for separation of common ambiguous combinations of HLA-B alleles was produced, and HSE was automated on a GenoM-6 robot, for consistent, walk-away processing for one to six haploid extractions. Under the proposed Phase II funding HSE will be expanded for use at other HLA loci, other HLA-linked genes, and polymorphic micro-satellite markers in the Major Histocompatibility Complex, MHC. It is a further goal of Phase II to demonstrate the direct compatibility of HSE with existing SNP-mapping information and to expand the automation of HSE to a 96-well platform.