| Summary: | Lisha Yang,1 Iqra Ijaz,1 Jingliang Cheng,1,2 Chunli Wei,1,3 Xiaojun Tan,4 Md Asaduzzaman Khan,1 Xiaodong Fu,5 Junjiang Fu1–3 1Key Laboratory of Epigenetics and Oncology, the Research Center for Precision Medicine, Southwest Medical University, Luzhou, 2Department of Pathology, Hunan Normal University College of Medicine, Changsha, 3State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau (SAR), 4Reproductive and Genetic Center, the Central Hospital of Xiangtan City, Xiangtan, 5Department of Obstetrics and Gynecology, First Affiliated Hospital of Southwest Medical University, Luzhou, People’s Republic of China Abstract: Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). Different primer sets for amplification refractory mutation system (ARMS) were designed and PCR conditions were optimized. Then, we evaluated the sequence variant in the patient, carrier, and a fetus by using ARMS technique to identify if they inherited the pathogenic gene from parental generation; we used amniotic fluid DNA for the diagnosis of the gene in the fetus. The primer pairs, WT2+C and MT+C, amplified high specific products in different DNAs which were verified by Sanger sequencing. Based on our results, ARMS technique is fast, accurate, and reliable prenatal gene diagnostic tool to assess CHM variants. Taken together, our study indicates that ARMS technique can be used as a potential molecular tool in the diagnosis of prenatal mutation for choroideremia as well as other genetic diseases in undeveloped and developing countries, where there might be shortage of medical resources and supplies. Keywords: choroideremia, CHM gene, mutation, amplification refractory mutation system (ARMS), prenatal diagnosis, evaluation
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