一例肠病性肢端皮炎患者的SLC39A4基因突变研究  

Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica

作　　者：牟韵竹[1] 张正中[1] 杨萍[1] 杨浩[1] 刘一平[1] 刘林莉[1] 陈星[1] 

机构地区：[1]川北医学院附属医院皮肤性病科,四川南充637000

出　　处：《中华医学遗传学杂志》2017年第3期387-389,共3页Chinese Journal of Medical Genetics

基　　金：四川省教育厅课题（09ZC047）

摘　　要：目的检测1例肠病性肢端皮炎患者SLC39A4基因的突变情况。方法收集1例肠病性肢端皮炎患者的临床资料，提取患者及其家庭成员的外周血DNA，同时选取100名无关健康人作为正常对照，用PCR扩增sLC39A4基因所有外显子编码区及其侧翼序列，通过对PCR反应产物直接测序进行序列分析。结果测序的结果显示患者和其母亲SLC39A4基因的第6外显子存在c．1110InsG（p．Gly370G1yfsX47→TGA）新的移码突变，患者和其父亲、祖母SLC39A4基因的第5外显子存在新的c．958C〉T（p．Q320X）无义突变。100名正常对照未检测出该位点突变。结论来源于母亲的c．1110InsG（p．Gly370GlyfsX47→TGA）移码突变和来源于父亲的c．958C〉T（p．Q320X）无义突变可能是导致该肠病性肢端皮炎患者发病的原因。Objective To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica （AE）. Methods Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by, PCR and direct sequencing. Results The results revealed that the patient and his mother have both carried a novel frame- shift mutation c. 1110InsG （p. Gly370GlyfsX47→TGA） in exon 6. A novel nonsense mutation c. 958C〉T （p. Q320X） in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls. Conclusion The novel frame-shift mutation c.1110InsG （p. Gly370GlyfsX47→TGA） derived from the mother and nonsense mutation c. 958C〉T （p. Q320X） of the SLC39A4 gene derived from the father may underlie the disease in the patient.

关 键 词：肠病性肢端皮炎 SLC39A4基因 突变 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]