Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathog...Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.展开更多
目的探索用微型磁笔进行DNA快速提取以及电泳鉴定的研究。方法取人血0.1 m l或菜叶0.1g,磁珠悬液0.25 m l,选择性结合DNA、洗涤、洗脱、电泳即得。不需离心,不用大量检材,用微型磁笔在离心管中微量操作,分离纯化DNA只需30 m in,电泳只需...目的探索用微型磁笔进行DNA快速提取以及电泳鉴定的研究。方法取人血0.1 m l或菜叶0.1g,磁珠悬液0.25 m l,选择性结合DNA、洗涤、洗脱、电泳即得。不需离心,不用大量检材,用微型磁笔在离心管中微量操作,分离纯化DNA只需30 m in,电泳只需50 m in。结果可以观察到清楚明亮的DNA条带,使大、中学师生同时掌握了正规DNA提取和琼脂糖电泳两项技能。结论本方法是对细胞生物学、医学遗传学实验的一大改进,对于DNA的提取是一大进步,它操作简捷直观、速度及准确率大为提高。展开更多
目的研究多巴胺β羟化酶(DBH)基因启动子区的19 bp Insert/Delet位点和α-2B肾上腺素能受体(α-2BAR)基因12Glu9位点与原发性高血压的相关性。方法选取原发性高血压患者196例,健康体检者121例,检测DBH基因启动子区的19 bp Insert/Delet...目的研究多巴胺β羟化酶(DBH)基因启动子区的19 bp Insert/Delet位点和α-2B肾上腺素能受体(α-2BAR)基因12Glu9位点与原发性高血压的相关性。方法选取原发性高血压患者196例,健康体检者121例,检测DBH基因启动子区的19 bp Insert/Delet位点和α-2BAR基因12Glu9位点多态性。结果 19 bp Insert/Delet位点和12Glu9位点的基因型和等位基因频率在病例组与对照组差异没有统计学意义(P>0.05);19 bpInsert/Delet位点和12Glu9位点的基因型对收缩压、舒张压、Na+浓度、体质量指数、K+浓度和C1-浓度变化的影响差异无统计学意义(P>0.05)。结论 DBH基因和α-2BAR基因在该人群中可能与原发性高血压和有关离子浓度变化无关。展开更多
文摘Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.
文摘目的探索用微型磁笔进行DNA快速提取以及电泳鉴定的研究。方法取人血0.1 m l或菜叶0.1g,磁珠悬液0.25 m l,选择性结合DNA、洗涤、洗脱、电泳即得。不需离心,不用大量检材,用微型磁笔在离心管中微量操作,分离纯化DNA只需30 m in,电泳只需50 m in。结果可以观察到清楚明亮的DNA条带,使大、中学师生同时掌握了正规DNA提取和琼脂糖电泳两项技能。结论本方法是对细胞生物学、医学遗传学实验的一大改进,对于DNA的提取是一大进步,它操作简捷直观、速度及准确率大为提高。
文摘目的研究多巴胺β羟化酶(DBH)基因启动子区的19 bp Insert/Delet位点和α-2B肾上腺素能受体(α-2BAR)基因12Glu9位点与原发性高血压的相关性。方法选取原发性高血压患者196例,健康体检者121例,检测DBH基因启动子区的19 bp Insert/Delet位点和α-2BAR基因12Glu9位点多态性。结果 19 bp Insert/Delet位点和12Glu9位点的基因型和等位基因频率在病例组与对照组差异没有统计学意义(P>0.05);19 bpInsert/Delet位点和12Glu9位点的基因型对收缩压、舒张压、Na+浓度、体质量指数、K+浓度和C1-浓度变化的影响差异无统计学意义(P>0.05)。结论 DBH基因和α-2BAR基因在该人群中可能与原发性高血压和有关离子浓度变化无关。
