Newborn Screening for Hearing Impairment

新生儿听力障碍筛查

• 批准号: 6682823
• 负责人: EDWIN W NAYLOR
• 金额: $ 65.65万
• 依托单位: PEDIATRIX SCREENING, INC.
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-07-01 至 2004-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6682823
• 关键词: communication disorder diagnosis; cytomegalovirus; diagnosis design /evaluation; gap junctions; gene mutation; genetic disorder diagnosis; genetic screening; hearing disorders; hearing tests; mass screening; membrane channels; microarray technology

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

描述：（改编自申请人摘要）：筛选的可行性