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目的:研究肠病性肢端皮炎(acrodermatitis enteropathica,AE)患者SLC39A4基因突变情况,为完善该病的基因诊断与遗传咨询提供分子生物学依据。方法:提取AE家系成员(包括1例男性AE患者及其双亲)和100例正常对照外周血白细胞基因组DNA,PCR扩增SLC39A4基因的全部外显子并行DNA测序。结果:检测到患者SLC39A4基因中第5号外显子c.831G>A和第10号外显子c.1617delA,前者导致编码蛋白密码子277位ATG变为ATA,编码的蛋氨酸Methionine M变为异亮氨酸Isoleucine I,后者导致cDNA1617位A丢失,移码突变。患者的父亲和母亲分别携带c.831G>A和c.1617delA基因突变,与家系无血缘关系的100名正常对照均未发现此突变。结论:SLC39A4基因c.831G>A和c.1617delA突变是导致该例患者AE的特异突变。
Objective: To study the mutation of SLC39A4 in patients with acrodermatitis enteropathica (AE) and to provide molecular evidence for gene diagnosis and genetic counseling. Methods: Genomic DNA of AE family members (including one male patient with AE and their parents) and 100 healthy control leukocytes were extracted and all the exons of SLC39A4 gene were amplified by PCR. Results: The exon 5 c.831G> A and exon 10 c.1617delA of SLC39A4 gene were detected in the SLC39A4 gene. The former resulted in the ATG of codon 277 changed to ATA, and the methionine methionine M became isoleucine Isoleucine I, which results in loss of cDNA at position 1617 A and frameshift mutations. The patient’s father and mother carried the c.831G> A and c.1617delA gene mutations, respectively, and none of the 100 normal controls who had no blood relationship with the pedigree did not find this mutation. Conclusion: The mutations of c.831G> A and c.1617delA in SLC39A4 gene are the specific mutations in AE of this patient.