首页> 外国专利> METHOD OF PRENATAL AND POSTNATAL DNA-DIAGNOSTICS OF DOWN, EDWARDS PATAU SYNDROME MUTATION delF508 IN GENE OF MUCOVISCIDOSIS AND RHESUS-FACTOR OF FOETUS

METHOD OF PRENATAL AND POSTNATAL DNA-DIAGNOSTICS OF DOWN, EDWARDS PATAU SYNDROME MUTATION delF508 IN GENE OF MUCOVISCIDOSIS AND RHESUS-FACTOR OF FOETUS

机译:粘膜黏膜病毒基因的唐氏,爱德华帕特氏综合征突变delF508的前,后DNA诊断方法

摘要

FIELD: chemistry.;SUBSTANCE: invention relates to biotechnology, namely to method of prenatal and postnatal DNA-diagnostics of Down, Edwards and Patau syndrome, mutation delF508 in gene of mucoviscidosis and rhesus-factor of foetus by method of quantitative fluorescent polymerase chain reaction. Method includes isolaion of DNA from analysed material by sorbent Nucleos of the set DIAtom DNA Prep 100. Eluation of DNA by distilled sterile water is carried out. Two multiplex amplifications with application of a set of fluorescent-marked primers are realised - first on 4 loci of the 21st chromosome, namely D21S1435, D21S1411, D21S11 and IFNAR, on mutation delF508 in gene of mucoviscidosis and on the site of the 10th exon of gene RhD, second - on 4 loci of the 13th chromosome, namely D13S628, D13S634, D13S742, D13S305, and 4 loci of the 18th chromosome, namely D18S386, D18S391, D18S535, D18S978. Obtained PCR-products are mixed in one hole. Detection by method of capillary electrophoresis in polyacrylamide gel is carried out.;EFFECT: invention makes it possible to diagnose presence of syndromes of Patau, Edwards and Down, mutations delF508 in gene of mucoviscidosis and rhesus of foetus belonging with high accuracy.;2 cl, 4 dwg, 1 tbl, 4 ex
机译:技术领域:本发明涉及生物技术,即涉及唐氏,爱德华兹和帕陶综合症的产前和产后DNA诊断方法,通过定量荧光聚合酶链反应的方法检测胎儿粘膜粘液病基因中的delF508突变和猕猴因子。方法包括通过DIAtom DNA Prep 100吸附剂核从被分析物质中分离出DNA。通过蒸馏无菌水洗脱DNA。应用一套荧光标记的引物实现了两次多重扩增-首先在21 st 染色体的4个基因座上,即D21S1435,D21S1411,D21S11和IFNAR,在粘膜粘膜粘着症和位于RhD基因第10 外显子的位点,位于第13 染色体的4个位点的第二个位点,即D13S628,D13S634,D13S742,D13S305和4个位点。第18 染色体,即D18S386,D18S391,D18S535,D18S978。将获得的PCR产物混合在一个孔中。效果:通过本发明,可以高精度地诊断帕陶,爱德华兹和唐氏综合症的存在,黏膜粘液病和胎儿恒河猴基因中的delF508突变,2 cl的存在。 ,4载重吨,1吨,4吨

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