| 摘要: |
| 目的：(1) 建立Ⅰ型常染色体显性遗传多囊肾病(ADPKDⅠ)的基因诊断方法；(2) 寻找具有普遍意义的突变方式，以优化基因诊断。方法：(1) 采用Southern杂交和 PCR 方法， 调查ADPKDⅠ基因3′端单拷贝区突变情况；(2) PCR扩增分析微卫星SM7。结果：将AH4与16例患者的基因组DNA进行Southern杂交后， 均显示有正常的15 kb的杂交片段。对27例患者ADPKD Ⅰ基因3′端AH4和JH14两探针间的5.72 kb 基因组DNA行PCR扩增后，未发现5.5 kb基因组DNA缺失。109名正常人SM7 PCR扩增显示，其多态信息含量(PIC)值为0.76，3个家系的SM7 等位片段与疾病基因连锁关系明确。结论：在汉族中：(1) ADPKDⅠ基因3′ 端单拷贝区无常见性大片段基因组DNA缺失类突变；(2) SM7所含PIC 较高，用其可在70％？80％的ADPKDⅠ家系中作出基因诊断。 |
| 关键词: 肾，多囊，常染色体显性 突变 诊断，基因 |
| DOI： |
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| The gene diagnosis and mutation survey of autosomal dominant polycystic kidney diseaseⅠ |
| 焦炳华,陈建鹤,缪为民,齐隽,朱有华,闵志廉,王立明 |
| () |
| Abstract: |
| Objective: To explore gene diagnosis of autosomal dominant polycystic kidney disease (ADPKDⅠ) and to look for the typical mutation to improve the gene diagnosis. Methods: Southern blot and PCR was used to observe the mutation condition of 3′end single copy region of ADPKDⅠ gene; Amplifing and analysing the microsatellite SM7 by PCR. Results: (1) After the probe AH4 was hybridized with 16 patients′ genomic DNA by Southern blot, the common 15 kb fragments were found in every one; (2) For 27 patients, 5.72 kb genomic DNA, which is between the probe AH4 and JH14, was amplified by PCR, and no 5. 5 kb genomic DNA deletion were found in this region; SM7 was amplified in 109 health persons, its PIC was 0.76, and was closely linked with ADPKD Ⅰ gene in 3 patients′ family. Conclusion:(1) No large genomic DNA segment deletion can be found frequently in ADPKD Ⅰ gene 3′end single copy region; (2) The PIC of SM7 is high, it can be used to make rapid gene diagnosis in about 70%？80%ADPKDⅠfamily. |
| Key words: kidney, polycystic, autosomal dominant mutation diagnosis,gene |
