MALDI-TOF-MS检测人群中骨形成蛋白4基因编码区突变方法的建立

doi:10.3969/j.issn.1004-616x.2011.04.014

›› 2011, Vol. 23 ›› Issue (4): 302-305.doi: 10.3969/j.issn.1004-616x.2011.04.014

• 检测研究 • Previous Articles Next Articles

Genotyping of bone morphoge-netic protein 4 gene mutation in coding region by matrix assisted laser desorption ionisation-time of flight mass spectrometry

XU Ming-yan1，2，DENG Xiao-ling3，CHEN Xi-he，LIU Ting-ying，CHEN Qing-shan，YAO Xiao-wu，TANG Shi-jie

1. Cleft Lip and Palate Treatment Centre, the Second Affiliated Hospital of Shantou University Medical College, Shantou 515041; 2. Department of Stomatology, the Second Affiliated Hospital of Shantou University Medical College, Shantou 515041; 3. Department of Cell Biology and Genetics, Shantou University Medical College, Shantou 515041, Guangdong, China

Received:2011-04-21 Revised:2011-06-06 Online:2011-07-30 Published:2011-07-30
Contact: XU Ming-yan

Abstract

Abstract: OBJECTIVE: To develop a method for detecting the mutations of BMP4 gene by matrix assisted laser desorption ionisation-time of flight mass spectrometry method (MALDI-TOF-MS). METHODS：BMP4 gene fragments were amplified by PCR using DNA extracted from blood samples of 100 non-syndromic cleft lip with or without cleft palate patients and 91 healthy unrelated individuals in Guangdong province. The mutations of BMP4 gene were analysed by MALDI-TOF-MS and identified by sequencing. RESULTS：The method for fast and high throughput genotyping BMP4 gene has been set up. The mutations of R162Q，R198X and T102A in BMP4 coding region were not found in 191 samples in our study. CONCLUSION：MALDI-TOF-MS is a fast，high throughput and accurate method for BMP4 gene mutation detection.

Key words: MALDI-TOF-MS, BMP4 gene, mutation

XU Ming-yan1，2，DENG Xiao-ling3，CHEN Xi-he，LIU Ting-ying，CHEN Qing-shan，YAO Xiao-wu，TANG Shi-jie. Genotyping of bone morphoge-netic protein 4 gene mutation in coding region by matrix assisted laser desorption ionisation-time of flight mass spectrometry[J]. , 2011, 23(4): 302-305.

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Genotyping of bone morphoge-netic protein 4 gene mutation in coding region by matrix assisted laser desorption ionisation-time of flight mass spectrometry

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