Newborn Screening for Hearing Impairment

描述：（改编自申请人摘要）：筛选的可行性 在与常规代谢试验平行的试验中检测听力障碍 筛选将被证明。由于遗传因素导致的听力损失， 分析巨细胞病毒。新生儿过滤器上的DNA 纸质血卡用作进行测定的核酸源。 将评价巨细胞病毒基因组中的几个靶序列， 他们的效用，以确定病毒DNA在新生儿标本。以下 连接蛋白26、Pendrin和连接蛋白31基因的突变作为模型系统 遗传性耳聋：（1）连接蛋白26 35 del G，167 del T，.Usher2A （2）Pendrin L236 S，T416 P;线粒体A1555 G。 诊断CMV DNA和所述突变的扩增子是 使用低密度寡核苷酸微阵列以多重形式进行分析。 微阵列vjfl清楚地区分纯合野生型，杂合子， 和所述突变的纯合突变体。听力筛查 在实验室为基础的程序中，与听觉筛查平行的损伤将 提供全面的上级筛选服务。实验室化验将确定许多 新生儿，将错过听觉筛查不可用。 拟议商业应用：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