Genomic Abnormalities Associated With The Birth Defects

Birth defects can be caused by genetic and/or environmental factors,not only affecting the health of infants and young children,but also the sustainable development of economy and society.Because of the limitation of resolution,current routine tests such as karyotyping can not detect small variations,such as microdeletion or microduplication.Thus in those cases,where abnormalities indicated by ultrasound may show normal karyotypes,further testing will be required for confirmation.Array-based comparative genomic hybridization(aCGH)is a high-resolution technology allowing for genome-wide detection of genomic copy number variations(CNVs).It is becoming a routine clinical diagnostic technique gradually replacing cytogenetic methods.The ability of aCGH technology in the detection of delayed growth,mental retardation,autism and congenital malformations,making it an important tool for discovery of disease genes and clinical diagnosis.aCGH also provides a very powerful tool for cancer research,cancer diagnosis,classification and prognosis valuation.The advantage of aCGH is its high-throughput and high-resolution.A large number of copy number variations can be detected in a single experiment.Development and clinical application of aCGH in the past few years has substantially changed the way the patient are diagnosed,and contributed greatly to the identification of many disease genes and our understanding the molecular basis of human diseases.Our lab is focusing on producing a new generation of high-quality whole-genome aCGH arrays,utilizing unique probe resources and our expertise in aCGH technology development and application.We designed primers to divide 17 million oligonucleotides which cover the whole genome(not contain repetitive sequences)into 23033 groups.Depending on the information obtained about birth defects,We chose some probes from 23033 groups to make targeted array which is aimed at detect CNVs of birth defects.Initial verification tests showed that the chip is feasible.Our aCGH platform is more robust than other aCGH platform on the market,due to high sensitivity,specificity,and low cost,which is a competitive advantage in the Chinese clinical market.China is a populous country and also has a high incidence of birth defects.The Chinese government has set high priority to the prevention of birth defects.Our work will provide a solution to unmet need in the Chinese clinical market.DNA chip,as a powerful analytic tool has found application in clinical diagnosis of birth defects.Our Lab has established collaboration with a number of hospitals to validate the utility of our newly development aCGH platform in clinical diagnosis.