两例常染色体显性多囊肾患者PKD1基因的突变检测  

Mutation detection of PKDI gene in patients with autosomal dominant polycysfic kidney diseases

作　　者：李立[1] 李麓芸[1] 钟昌高[1] 高伯笛[1] 卢光琇[1] 

机构地区：[1]中南大学湘雅医学院生殖与干细胞研究所中信湘雅生殖与遗传专科医院,长沙410078

出　　处：《中华医学遗传学杂志》2007年第6期666-669,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究两例常染色体显性多囊肾患者的致病原因。方法对常染色体显性多囊肾患者的多囊肾病1基因（PKD1）3′端单拷贝区进行了聚合酶链反应-变性高效液相色谱（PCR-denaturing high-per-formance liquid chromatography,DHPLC）分析,并对有异常峰形的PCR产物进行测序。结果在1例患者中发现第42外显子的C11901A有一个无义突变,导致原丝氨酸3897变为终止密码子;而另一例患者第35外显子的C10737T有一个错义突变,导致原苏氨酸3509变为甲硫氨酸。在正常对照中发现两种同义突变分别为第42外显子的G11824A及C11860T。结论用DHPLC和DNA测序方法对两名患者进行PKD1的突变检测中,发现一个新的无义突变、一个错义突变以及两种同义突变。Objective To detect gene mutation in the patients with autosomal dominant polycystic kidney disease （PKD）. Methods Polymerase chain reaction （PCR）-denaturing high-performance hquid chromatography （DHPLC） analyses were performed in 3＇ single copy region of PKD 1 gene （PKD1）. DNA sequencing were carried out on PCR products with abnormal peak shape afterwards. Results A new nonsense mutation （ Cll901A in exon 42 of PKD1 ） was identified to cause serine in position 3897 turning to a stop codon. A missense mutation, C10737T, was detected in exon 35 which caused threonine in position 3509 turn to methionine. Two kinds of sarnesense mutation, G11824A and Cl1860T in exon 42, were found in normal control. Conclusion PKD1 mutation were detected successfully by PCR- DHPLC. A new nonsense mutation, a missense mutation and two polymorphisms are identified in this study.

关 键 词：常染色体显性多囊肾 多囊肾病Ⅰ型基因 基因突变 变性高效液相色谱 

分 类 号：R686[医药卫生—骨科学]