Li Li, Li Lu-yun, Zhong Chang-gao, Gao Bo-di, Lu Guang-xiu
Human Peproductive and Stem Cell Engineering Institute, Xiangya School of Medicine, Central South University Changsha, Hunan, 410078 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):666-9.
To detect gene mutation in the patients with autosomal dominant polycystic kidney disease (PKD).
Polymerase chain reaction (PCR)-denaturing high-performance liquid chromatography (DHPLC) analyses were performed in 3o single copy region of PKD 1 gene (PKD1). DNA sequencing were carried out on PCR products with abnormal peak shape afterwards.
A new nonsense mutation (C11901A 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 samesense mutation, G11824A and C11860T in exon 42, were found in normal control.
PKD1 mutation were detected successfully by PCR-DHPLC. A new nonsense mutation, a missense mutation and two polymorphisms are identified in this study.
检测常染色体显性多囊肾病（PKD）患者的基因突变。
对PKD 1基因（PKD1）的30个单拷贝区域进行聚合酶链反应（PCR）-变性高效液相色谱（DHPLC）分析。之后对峰形异常的PCR产物进行DNA测序。
鉴定出一种新的无义突变（PKD1第42外显子中的C11901A），导致第3897位的丝氨酸变为终止密码子。在第35外显子中检测到一种错义突变C10737T，导致第3509位的苏氨酸变为甲硫氨酸。在正常对照中发现了第42外显子中的两种同义突变G11824A和C11860T。
通过PCR-DHPLC成功检测到PKD1突变。本研究鉴定出一种新的无义突变、一种错义突变和两种多态性。
