›› 2011, Vol. 31 ›› Issue (7): 957-.doi: 10.3969/j.issn.1674-8115.2011.07.019

• Original article (Clinical research) • Previous Articles     Next Articles

Application of MLPA in gene diagnosis of autosomal dominant polycystic kidney disease

YU Guo-peng1, QI Jun1, LONG Fei2, HUANG Yi-chen1, QIAN Xiao-qiang1, TAO Jiong2, CHEN Jian-hua1   

  1. 1.Department of Urology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China；2.Cytogenetics Laboratory, Shanghai Institute for Pediatric Research, Shanghai 200092, China
  • Online:2011-07-28 Published:2011-07-27
  • Supported by:

    Foundation from Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 09YJ02

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Abstract:

Objective To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Methods MLPA was employed to detect the PKD1 gene and PKD2 gene in 20 patients with ADPKD. Verification with RT-PCR was performed for those with single exon duplication or suspected duplication detected by MLPA. Those with single exon deletion or suspected deletion detected by MLPA were verified with PCR, and sequencing analysis was conducted in those with amplification products. Results One patient with single exon deletion (PKD1 Exon40), 5 patients with single exon suspected deletion (PKD1 Exon1, PKD1 Exon25, PKD2 Exon8, PKD2 Exon8 and PKD1 Exon25) and 3 patients with single exon suspected duplication (PKD1 Exon6, PKD1 Exon7 and PKD1 Exon7) were detected by MLPA. One patient with single exon duplication (PKD1 Exon6) was verified by RT-PCR, and one patient with single exon missense mutation (PKD1 Exon40) and one patient with single exon deletion (PKD2 Exon8) were verified by PCR and sequencing analysis. Conclusion MLPA may serve as a new method for gene diagnosis of ADPKD.

Key words: autosomal dominant polycystic kidney disease, gene mutation, multiplex ligation-dependent probe amplification