目的探讨1例N-乙酰谷氨酸合成酶缺乏症家系的遗传学病因,并为该家系再次生育提供遗传咨询和产前诊断。方法应用Trio全外显子组测序寻找N-乙酰谷氨酸合成酶缺乏症家系的致病原因。根据美国医学遗传学与基因组学学会(American College of ...目的探讨1例N-乙酰谷氨酸合成酶缺乏症家系的遗传学病因,并为该家系再次生育提供遗传咨询和产前诊断。方法应用Trio全外显子组测序寻找N-乙酰谷氨酸合成酶缺乏症家系的致病原因。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMGG)推荐的基因变异临床意义分类标准对检出的变异进行分类,评估其致病风险。该家系再次生育时,应用Sanger测序针对检出的变异进行产前诊断。结果Trio全外显子组测序结果显示:患儿NAGS基因存在c.68delG和c.796G>C复合杂合变异,其父母分别携带c.796G>C和c.68delG杂合变异。上述变异均未见文献报道,根据ACMGG变异判读指南,c.68delG为"疑似致病"变异(PVS1+PM2),c.796G>C为"临床意义不明确"变异(PM2+BP4)。Sanger测序验证了Trio全外显子组测序的检测结果,并在羊水细胞中仅检测出c.796G>C杂合变异。该胎儿出生后6个月随访,未发现明显异常。结论NAGS基因c.68delG和c.796G>C复合杂合变异可能为该家系中患儿的致病原因,基因检测结果为家系的遗传咨询和产前诊断提供了依据。展开更多
The synthesis process of N-acetyl-aspartyl-glutamate (NAAG) was studied, in which L-aspartic acid was used as the raw material, and the dipeptide was first prepared by esterification,acylation and the reaction with L-...The synthesis process of N-acetyl-aspartyl-glutamate (NAAG) was studied, in which L-aspartic acid was used as the raw material, and the dipeptide was first prepared by esterification,acylation and the reaction with L-glutamic acid, and then the product NAAG was finally obtained by hydrolyzation and purification.The product and the intermediate were analyzed and identified by melting point measuring, elemental analysis, polarimeter and IR analysis.The effects of mixture ratio of raw materials, reaction temperature and reaction time were investigated.The results showed that the total yield was 50.02% when the esterification temperature was controlled at 20℃, esterification time 10 h, acylation temperature 70℃, acylation time 2 h, and DCC was used as the addition reagent to synthesize dipeptide.The hydrolization temperature was 60℃, the hydrolization time was 4 h.The product was purified by ion-exchange resin.The purity detected by HPLC was 97.5%.展开更多
文摘目的探讨1例N-乙酰谷氨酸合成酶缺乏症家系的遗传学病因,并为该家系再次生育提供遗传咨询和产前诊断。方法应用Trio全外显子组测序寻找N-乙酰谷氨酸合成酶缺乏症家系的致病原因。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMGG)推荐的基因变异临床意义分类标准对检出的变异进行分类,评估其致病风险。该家系再次生育时,应用Sanger测序针对检出的变异进行产前诊断。结果Trio全外显子组测序结果显示:患儿NAGS基因存在c.68delG和c.796G>C复合杂合变异,其父母分别携带c.796G>C和c.68delG杂合变异。上述变异均未见文献报道,根据ACMGG变异判读指南,c.68delG为"疑似致病"变异(PVS1+PM2),c.796G>C为"临床意义不明确"变异(PM2+BP4)。Sanger测序验证了Trio全外显子组测序的检测结果,并在羊水细胞中仅检测出c.796G>C杂合变异。该胎儿出生后6个月随访,未发现明显异常。结论NAGS基因c.68delG和c.796G>C复合杂合变异可能为该家系中患儿的致病原因,基因检测结果为家系的遗传咨询和产前诊断提供了依据。
文摘The synthesis process of N-acetyl-aspartyl-glutamate (NAAG) was studied, in which L-aspartic acid was used as the raw material, and the dipeptide was first prepared by esterification,acylation and the reaction with L-glutamic acid, and then the product NAAG was finally obtained by hydrolyzation and purification.The product and the intermediate were analyzed and identified by melting point measuring, elemental analysis, polarimeter and IR analysis.The effects of mixture ratio of raw materials, reaction temperature and reaction time were investigated.The results showed that the total yield was 50.02% when the esterification temperature was controlled at 20℃, esterification time 10 h, acylation temperature 70℃, acylation time 2 h, and DCC was used as the addition reagent to synthesize dipeptide.The hydrolization temperature was 60℃, the hydrolization time was 4 h.The product was purified by ion-exchange resin.The purity detected by HPLC was 97.5%.
