Newborn Screening for Hearing Impairment

描述：(改编自申请人摘要)：筛选的可行性 一项与常规代谢平行的新生儿听力障碍检测 将演示如何进行筛选。遗传因素引起的听力损失和 对巨细胞病毒进行分析。从世界各地收集的新生儿过滤器中提取DNA 纸质血卡是进行检测的核酸来源。 巨细胞病毒基因组中的几个靶序列将被评估 它们在识别新生儿样本中的病毒DNA方面的效用。以下是 连接蛋白26、连接蛋白和连接蛋白31基因突变作为模型系统 遗传性耳聋：(1)连接蛋白26 35 del G，167 del T，.Usher2A 2314delG；(2)垂蛋白L236S，T416P；线粒体A1555G。 对CMV DNA和所描述的突变具有诊断作用的扩增产物包括 使用多重格式的低密度寡核苷酸微阵列进行分析。 微阵列Vjf1清楚地区分纯合子野生型、杂合子 以及所述突变的纯合子突变。筛查以进行听证 以实验室为基础的项目中的损害，与听觉筛查平行，将 提供全面优越的筛查服务。实验室化验将鉴定出许多 在无法进行听觉筛查的情况下，会错过的新生儿。 建议的商业应用：不可用

DESCRIPTION: (Adapted from applicant's abstract): The feasibility of screening borns for hearing impairmflent in an assay paralleling routine metabolic screening will be demonstrated. Hearing loss owing to heredity factors and cytomegalovirus are analyzed. DNA from the universally collected newborn filter paper blood card serves as the source of nucleic acids to perform the assay. Several target sequences in the cytomegalovirus genome will be evaluated for their utility to identify viral DNA in the newborn specimen. The following mutations in connexin 26, Pendrin, and connexin 31 genes serve as model systems for hereditary hearing loss: (1) connexin 26 35 del G, 167 del T, .Usher2A 23l4delG; (2) Pendrin L236S, T416P; Mitochondrial A1555G. Amplicons that are diagnostic for CMV DNA and the described mutations are analyzed using a low-density oligonucleotide inicroarray in a multiplex format. The microarray vjfl clearly distinguish homozygous wild type, heterozygotes, and homozygous mutants for the described mutations. Screening for hearing impairment in a laboratory-based program, parallel to auditory screening, will provide an overall superior screening service. The lab assay will identify many newborns that would be missed where auditory screening is not available. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE