Cystic Fibrosis Carrier Screening And Gene Sequencing Analysis Of Oklahoma

Objectives:Cystic fibrosis is the most common autosomal recessive genetic disease in whitepeople. The disease is caused by a mutation in the cystic fibrosis transmembraneconductance regulator (CFTR) gene on Chromosome7, which codes for the proteinthat regulates chloride ion transport by epithelial cells. Its neonatal prevalence is1in2500-3500, due to the regional differences in various regions, the incidence of thisdisease is very different. The CF Foundation estimates that there are30,000individuals affected with CF in the United States and that1:29Americans are CFcarriers. This study reviews data from the genetics laboratory of the University ofOklahoma Health Sciences Center, it includes the cystic fibrosis carrier screening andgenetic sequencing data. Evaluating the performance of the prenatal carrieringscreening and comparing observed detection rates with predicted results of theAmerican College of Medical Genetics and Genomics/American College ofObstetricians and Gynecologists recommended panel of23mutations, and finding thenovel mutation at the same time.Methods:Collecting the patient’s peripheral blood, amniotic fluid, or oral swabs, and thenusing the whole blood quick-gene DNA extraction kit and phenol extraction methodto extract DNA. Using the CF-IVD application kit and ABI3130X1Genetic Analyzerto do the CF carrier screening test, and this screening board contains32commoncystic fibrosis mutations. The DNA samples that need for gene sequencing analysiswill use BigDye Terminator v3.1Cycle Sequencing Kit and ABI3130X1GeneticAnalyzer to detect, and the sequences were analyzed using Mutation Surveyorsoftware. We reviewed the data from the genetics laboratory of the University ofOklahoma Health Sciences Center that from2003to2014, the database contains atotal of2693cases of tests, carrier screening accounted for2641，including2495casesof prenatal carrier screening, gene sequencing analysis accounted for52cases. Results:The observed carrier frequency of the prenatal carrier screening is1/25thatobserved by32mutation screening panel, it’s a little higher than the population-basedcarrier frequency that observed by23mutation screening panel(1:29). The mostcommon mutation of all the detected mutations is ΔF508, accounting for73.17%ofall mutations, the second most common mutation is R117H, accounting for9.02%ofall mutations, and finding a novel mutation c.3062C> T in the gene sequencing.Conclusions:1. Based on our test results, the observed carrier frequency of the prenatal carrierscreening is a little high，that may be because most people of Oklahoma is white. Inorder to reduce the risk of having a child with cystic fibrosis, all the pregnant womenshould do prenatal screening.2. The most common mutation of all the cystic fibrosis gene mutations is F508，followed by R117H.3. To date, nearly2000unique mutations have been described in the CFTR geneSince1989discovered the first mutation in the cystic fibrosis gene. we also found anew mutation as c.3062C> T in our study that enriched cystic fibrosis gene mutationspectrum a new mutation as c.3062C> T in our study that enriched cystic fibrosisgene mutation spectrum.