| 河南省发现PAH基因外显子7遗传复合体1例 |
| |
| 引用本文： | 董敏,李继红,黄尚志.河南省发现PAH基因外显子7遗传复合体1例[J].河北北方学院学报(医学版),2005,22(1):74-76. |
| |
| 作者姓名： | 董敏 李继红 黄尚志 |
| |
| 作者单位： | 1. 中国医学科学院基础医学研究所遗传室,100005
2. 河北北方学院生物教研室 |
| |
| 摘 要： | 目的:筛查苯丙酮尿症(PKU)患者PAH基因外显子7遗传复合体突变的特点和检测.方法:采用PCR-SSCP和PCR产物序列分析法对103个家系进行基因分析.结果:发现一例患者为PAH基因外显子7 R243Q和G 257V突变的遗传复合体.结论:G257V突变发生较少见,尤其是R243Q和G257V复合体值得跟踪调查,探讨其发生是否与人群和地域分布有关.
|
| 关 键 词： | 苯丙酮尿症 基因突变 单链构象 遗传复合体 |
| 文章编号： | 1673-1484(2005)01-0074-03 |
One Case of Genetic Compound in Exon 7 of PAH Gene was Found in Henan Province |
| |
| DONG Min,LI Ji-hong,HUANG Shang-Zhi.One Case of Genetic Compound in Exon 7 of PAH Gene was Found in Henan Province[J].Journal of Hebei North University:Medical Edition,2005,22(1):74-76. |
| |
| Authors: | DONG Min LI Ji-hong HUANG Shang-Zhi |
| |
| Abstract: | Objective: The study was to survey genetic compound in exon 7 of PAH gene responsible for PKU, its characteristics and detecting method. Methods: The gene of a patient was analysized by using PCR-SSCP and sequencing of PCR products. Results: It showed that the patient had a genetic complex mutation ,i.e. R243Q and G257V,in exon 7 of PAH gene. Conclusion:The occurence of G257V mutation was rare, especially combined with R243Q, which needed studying to explore whether the occurence was related to the particular population and geography. |
| |
| Keywords: | PKU gene mutation SSCP genetic compound |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
