肠病性肢端皮炎中SLC39A4基因的新突变类型-皮肤病与性病学专业论文.docxVIP

华中科技大学硕士学位论文 华 中 科 技 大 学 硕 士 学 位 论 文 PAGE 6 PAGE 6 Novel mutations of SLC39A4 gene in acrodermatitis enteropathica Abstract Objective: Learn the genetic characteristics and Clinical manifestations of AE. Study the gene SLC39A4 which locus on chromosome 8q24.3 from an AE patient and his family members. Then compare the results with the healthy. Analysis whether there exists SLC39A4 gene mutations. Thus getting a better understanding of the pathogenesis of AE, furthermore providing a scientific basis for Gene Therapy of AE and perinatal diagnostic. Methods: According to the characteristics of genetic diseases, using biology and genetics mutation detection technologies, making a collection of peripheral blood samples from the healthy people, the patient and his family members. Extracting DNA samples with genomic DNA purification technology; Amplifying DNA Sequences with PCR Technology; Purification of the amplified products and Agarose Gel Electrophoresis with PCR purification technology; The results was detected and analyzed by ABI 3730 automated sequencer. Results: Comparison of SLC39A4 in Gen Bank, found two novel SLC39A4 gene mutations in the AE patient, and the proteins which encoded by the mRNA, have also been changed; The same thing happened to his parents; 60 healthy people, who have no relationship with the patient , without SLC39A4 gene mutations and proteins’ change. Conclusion: Genetic characteristics of AE: an autosomal recessive. Recent research revealed that SLC39A4 gene mutations are responsible for acrodermatitis enteropathica. This gene is located on human chromosome 8q24.3. It encodes one member of a human zinc transporter-like protein, also named as hZIP4. This kind of protein was mainly distributed in the small intestine, stomach, colon, appendix, kidney and other tissues, which involved in the regulation and transportation of human zinc ions. According to the genetics characteristics and clinical manifestation, the main conclusions have been re