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遗传果糖不耐受症的检测方法建立

Establishment of detection method for genetic fructose intolerance
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摘要 目的对罕见的人遗传性果糖不耐受症进行常规方法建立,为日后临床检验提供方法依据。方法运用基因合成的办法合成带有突变的基因片段,用诊断性PCR产物直接测序分析其基因组上的A149P,A174D和N334K的3个主要的基因突变位点。结果通过NCBI上的基因序列,合成出相应的突变基因片段为阳性对照,后连接到18T载体,挑菌并通过测序结果显示,确定其A149P、A174D序列正确。结论运用PCR结合DNA测序的分析方法,可在分子遗传水平上,从基因上直接判断是否存在患病的可能,如结合临床诊断,那将会大大提高该罕见病的流行调查效率。 Objective To establish a routine method for the hereditary fructose intolerance, which provides a basis method for the future clinical examination. Methods The gene fragments of A149 P, A174D and N 334K were analyzed by the direct sequencing of the diagnostic PCR products. Results The gene fragment of NCBI was synthesized and the corresponding mutant gene fragment was taken as the positive control. The sequences of A149P and A174D were confirmed by sequencing. Conclusion Combining the PCR and sequencing can be diagnosed in the Molecular genetics, further, diagnosis can be made with the clinical characteristics to improve the survey efficiency .
作者 黄源坚
出处 《佛山科学技术学院学报(自然科学版)》 CAS 2017年第1期64-66,共3页 Journal of Foshan University(Natural Science Edition)
关键词 遗传性果糖不耐受症 基因突变位点检测 PCR扩增鉴定 hereditary fructose intolerance gene mutation’s detection PCR amplification identification
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