DNA NEONATAL SCREENING KIT FOR CYSTIC FIBROSIS

描述：该SBIR应用程序涉及开发一种试剂盒， 允许筛选最常见的囊性纤维化突变（三种 密码子508处的碱基对缺失）。 该第二 分级筛选将在 现行免疫反应性胰蛋白酶试验。 首席研究员，谁 在开发筛查测试方面拥有丰富的经验，将与 一位最初发现囊性纤维化的科学家 八年前，基因开发了一种基于DNA的检测试剂盒， 坚固耐用且易于使用。 该申请描述了以下需求： 这样一个工具包，目前还没有一个， 早期检测可以对患者的健康产生重大影响。 年轻的病人

DESCRIPTION: This SBIR application involves development of a kit to allow screening of the most common cystic fibrosis mutation (the three base pair deletion at codon 508) in a clinical setting. This second tier screening will be performed after or in conjunction with the current immunoreactive trypsin test. The principal investigator, who has wide experience in developing screening tests, will collaborate with one of the scientists who initially identified the cystic fibrosis gene eight years ago to develop a DNA-based assay kit that is intended to be robust and easy to use. The application describes the need for such a kit, that there is not one currently available and that very early testing can have a significant outcome for the health of the young patient.