2) Tetranucleotide repeat sequence
四核苷酸重复序列
1.
Detection on Tetranucleotide Repeat Sequence Genotype of Low Density Lipoprotein Receptor Related Protein;
低密度脂蛋白受体相关蛋白四核苷酸重复序列基因型检测
3) trinucleotide and tetranucleotide repeat
三核苷酸和四核苷酸重复
4) nucleotide repeat
核苷酸重复
1.
Objective Undertake the mutation analysis of ATXN8OS、ATXN10、PPP2R2Bgene; Identify the extent of ATXN8OS、ATXN10、PPP2R2B repeat numberin normal people; Establish the diagnostic platform for fragmentnucleotide repeat detection by Southern blot.
目的 开展ATXN8OS、ATXN10、PPP2R2B基因的突变分析,探讨ATXN8OS、ATXN10、PPP2R2B基因的正常核苷酸重复范围,建立Southern blot技术检测大片段核苷酸重复的技术平台。
5) trinucleotide repeat
三核苷酸重复
1.
Methods CAG trinucleotide repeat number detection of ATXN7 gene,in 521 SCA probands(337 were autosomal dominant ataxia,184 were sporadic)and 258 healthy individuals,were carried out by PCR and denaturing polyacrylamide gel or capillary electrophoresis,following with summarization of the clinical characteristics of the seven SCA7 pedigrees.
方法运用聚合酶链反应、变性聚丙烯酰胺凝胶电泳和毛细管电泳方法对521例临床诊断为SCA的患者(337例常染色体显性遗传先证者,184例散发患者)及258名健康对照人群进行ATXN7基因CAG三核苷酸重复突变分析,并对有ATXN7基因异常的7个家系进行临床总结。
2.
Methods: The trinucleotide repeat mutations were dletected by polymerase chain reaction (PCR) , fluorescence-PCR and related techniques in healthy indixiduals from the SCA families according to the applicants.
方法:对临床诊断为脊髓小脑共济失调的家系“健康”成员,采用聚合酶链反应(PCR)对三核苷酸重复(TNR)片段进行扩增,荧光PCR、毛细管电泳技术计算其长度,推算出正常和异常扩增等位基因内TNR重复拷贝数。
3.
Expansion of trinucleotide repeats represents an important type of pathogenic mutations.
三核苷酸重复的延展突变是导致遗传病的重要机制之一。
6) trinucleotide repeats
三核苷酸重复
1.
The expansion of trinucleotide repeats in genome is related to the phthogenesis of several neurodegenerative deseases.
人类基因中三核苷酸重复序列拷贝数的异常扩增,可导致多种神经系统疾病。
补充资料:5-复方单核苷酸钠 ,复方5′-单核苷酸钠
药物名称:复方5′-单核苷酸钠
英文名:
别名: 5-复方单核苷酸钠 ,复方5′-单核苷酸钠
适应症: 用于各种原因引起的白细胞减少症、血小板减少症、高血压、中毒性肝炎等的治疗。
用量用法: 口服:40~60mg/次,3次/日。肌注:0.05g/次,1~2次/日。
规格: 片剂:20mg;针剂:0.025mg/2ml、0.05g/2ml。
类别:促进白细胞增生药
英文名:
别名: 5-复方单核苷酸钠 ,复方5′-单核苷酸钠
适应症: 用于各种原因引起的白细胞减少症、血小板减少症、高血压、中毒性肝炎等的治疗。
用量用法: 口服:40~60mg/次,3次/日。肌注:0.05g/次,1~2次/日。
规格: 片剂:20mg;针剂:0.025mg/2ml、0.05g/2ml。
类别:促进白细胞增生药
说明:补充资料仅用于学习参考,请勿用于其它任何用途。
参考词条