MSX1 799G>T 变异与南印度青少年非综合征性唇腭裂的关联。
Association of MSX1 799 G>T variant with nonsyndromic cleft lip/palate in South Indian adolescent patients.
机构信息
Department of Orthodontics and Dentofacial Orthopedics, BP Koirala Institute of Health Sciences, Dharan, Nepal.
出版信息
Int J Paediatr Dent. 2012 May;22(3):228-31. doi: 10.1111/j.1365-263X.2011.01184.x. Epub 2011 Oct 4.
BACKGROUND
Nonsyndromic cleft lip/palate (NSCLP) is a common congenital anomaly with significant medical, psychological, social, and economic ramifications. It is an example of complex genetic trait. There is sufficient evidence to hypothesise that disease locus for this condition can be identified by candidate genes. The purpose of this study was to test whether MSX1 (799 G>T) gene variant was involved in the aetiology of NSCLP.
METHODS
Blood samples were collected with informed consent from 25 subjects having NSCLP and 25 controls. Genomic DNA was extracted from the blood samples, polymerase chain reaction was performed (PCR), and digestion products were evaluated.
RESULTS
The results showed a positive correlation between MSX1 (799 G>T) gene variant and NSCLP patients.
CONCLUSION
MSX1 (799 G>T) gene variants may be a good screening marker for NSCLP.
背景
非综合征性唇腭裂（NSCLP）是一种常见的先天性畸形，具有重大的医学、心理、社会和经济影响。它是一种复杂的遗传特征的例子。有充分的证据假设，通过候选基因可以确定该疾病的发病部位。本研究的目的是测试 MSX1（799G>T）基因变异是否参与 NSCLP 的发病机制。
方法
在知情同意的情况下，从 25 名 NSCLP 患者和 25 名对照者中采集血样。从血样中提取基因组 DNA，进行聚合酶链反应（PCR），并评估消化产物。
结果
结果显示，MSX1（799G>T）基因变异与 NSCLP 患者之间存在正相关。
结论
MSX1（799G>T）基因变异可能是 NSCLP 的一个很好的筛查标记。
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