[一个常染色体显性遗传性多囊肾病家系中PKD1基因新型剪接突变的鉴定]
[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].
作者信息
Xu Peiwen, Zou Yang, Li Jie, Huang Sexin, Gao Ming, Kang Ranran, Gao Yuan
机构信息
Center for Reproductive Medicine, Shandong University; National Research Center for Assisted Reproductive Technology and Reproductive Genetics; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):778-781. doi: 10.3760/cma.j.issn.1003-9406.2016.06.007.
OBJECTIVE
To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).
METHODS
The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.
RESULTS
A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.
CONCLUSION
The novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.
目的
鉴定一个常染色体显性遗传性多囊肾病（ADPKD）家系中PKD1基因的潜在突变。
方法
对PKD1基因的编码区进行聚合酶链反应（PCR）和桑格测序。采用逆转录聚合酶链反应（RT-PCR）测定患者体内的相对信使核糖核酸（mRNA）表达。
结果
在该家系的所有5名患者中检测到PKD1基因存在一个剪接位点突变，即c.8791+1_8791+5delGTGCG（IVS23+1_+5delGTGCG），但在6名表型正常的亲属和40名健康对照中未检测到。RNA测序证实PKD1基因第23外显子的3'端插入了8个碱基。
结论
新发现的c.8791+1_8791+5delGTGCG突变产生了一个新的剪接位点并导致移码，这可能是该家系中ADPKD的发病原因。上述发现丰富了PKD1基因的突变谱。
Zotero 插件