CAJ | 학술논문

目的研究1例肾上腺皮质癌患儿TP53基因突变情况,为该病的基因诊断与遗传咨询提供依据.方法提取1例肾上腺皮质癌患儿及父母外周血基因组DNA,针对TP53基因设计特异性引物,采用聚合酶链式反应(PCR)扩增基因的全部编码及侧翼序列,对扩增产物进行直接测序.结果 PCR结合DNA测序发现患者TP53基因第5外显子存在异常:第522与523位核苷酸间插入一个鸟嘌呤(c.522-523insG),导致P53蛋白DNA结合域第175位密码子由精氨酸(R)变为丙氨酸(A),并从突变位置起发生移码,产生移码突变(p.R175AfsX6).患者父亲带有相同的突变,而母亲未发现此突变.结论 TP53基因p.R175AfsX6生殖系突变是导致该例患者肾上腺皮质癌的特异突变.
목적 연구1례신상선피질암환인TP53기인돌변정황,위해병적기인진단여유전자순제공의거.방법 제취1례신상선피질암환인급부모외주혈기인조DNA,침대TP53기인설계특이성인물,채용취합매련식반응(PCR)확증기인적전부편마급측익서렬,대확증산물진행직접측서.결과 PCR결합DNA측서발현환자TP53기인제5외현자존재이상:제522여523위핵감산간삽입일개조표령(c.522-523insG),도치P53단백DNA결합역제175위밀마자유정안산(R)변위병안산(A),병종돌변위치기발생이마,산생이마돌변(p.R175AfsX6).환자부친대유상동적돌변,이모친미발현차돌변.결론 TP53기인p.R175AfsX6생식계돌변시도치해례환자신상선피질암적특이돌변.
Objective To detect the germline TP53 gene mutation in a child with pediatric adrenocortical carcinoma (ADCC) in order to provide genetic diagnosis and counseling. Methods Genomic DNA was extracted from peripheral blood from a girl with ADCC and her parents. All TP53 exons and their flanking intronic sequences were PCR-amplified and subjected to automatic DNA sequencing. Results Direct sequencing of PCR products revealed a heterozygous G insertion between nucleotide 522 and 523 (c.522-523insG) in TP53 exon 5. This novel mutation is predicted to result in a frame shift at codon 175, producing a new reading frame ending in a stop at position 6 (p.R175AfsX6). The same heterozygous mutation was also found in her father, but not in her mother. Conclusion A novel germline mutation in the TP53 gene has been identified in one case with pediatric ADCC.