首页> 外国专利> METHOD OF DIAGNOSTICS OF CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE IN CHILDREN WITH THE USE OF THE TECHNOLOGY OF SEQUENCING THE NEW GENERATION

METHOD OF DIAGNOSTICS OF CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE IN CHILDREN WITH THE USE OF THE TECHNOLOGY OF SEQUENCING THE NEW GENERATION

机译:利用新生代测序技术对儿童先天性肾综合征的诊断方法

摘要

FIELD: medicine.;SUBSTANCE: molecular genetic analysis of the encoding, adjacent intron, 3' and 5' untranslated regions of the genes NPHS1, NPHS2, PLCE1, TRPC6, ACTN4, WT1, COL4A5, CD2AP, COL4A3, COL4A4 using SeqCap EZ targeted targeting technology on the 454 platform. In case of detection of mutations c.3478CT, the NPHS1 and c.1120AG genes of the CD2AP gene in the heterozygous state make a conclusion about the presence of a congenital nephrotic syndrome of the Finnish type.;EFFECT: invention allows us to conclude that there is a genetically determined nephrotic syndrome, which in turn makes it possible to adjust the tactics of patient therapy from the first days of life, to reduce the consequences of possible disability and to improve the patient's quality of life.;1 ex
机译:领域:医学;实体:使用SeqCap EZ靶向的NPHS1,NPHS2,PLCE1,TRPC6,ACTN4,WT1,COL4A5,CD2AP,COL4A3,COL4A4编码基因,相邻内含子,3'和5'非翻译区的分子遗传学分析454平台上的定位技术。在检测到突变c.3478C> T的情况下,杂合状态的CD2AP基因的NPHS1和c.1120A> G基因得出关于芬兰类型的先天性肾病综合征的结论。我们得出的结论是,存在遗传确定的肾病综合征,这反过来使得从生命的第一天开始调整患者治疗策略,减少可能的残疾后果并改善患者的生活质量成为可能.1前

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