首页> 外国专利> LARGE-SCALE GENOTYPING OF DISEASES AND DIAGNOSTIC TEST FOR CEREBELLAR ATAXIA OF TYPE 6

LARGE-SCALE GENOTYPING OF DISEASES AND DIAGNOSTIC TEST FOR CEREBELLAR ATAXIA OF TYPE 6

机译:大型脑型6型糖尿病疾病的基因分型和诊断测试

摘要

FIELD: medicine. SUBSTANCE: present innovation deals with the screening of the patients with the risk for disease development induced by instability of trinucleotide repeated sequence, in particular, it is performed the screening of patients with the risk for the development of autosomal dominant cerebellar ataxia of type 6 due to detecting the length of CAG-trinucleotide repeat in 1A-gene of a calcium channel in a certain patient and if a genomic DNA contains such large-sized sequences against a control these patients are considered to be referred to the risk group for the development of autosomal dominant spinal and cerebellar ataxia of type 6. The method elaborates efficient way for genotyping of genetic diseases. EFFECT: higher efficiency. 3 cl, 4 dwg, 8 ex, 2 tbl
机译:领域:医学。物质:本发明涉及对由三核苷酸重复序列的不稳定性引起的具有疾病发展风险的患者的筛查,特别是对因6型常染色体显性小脑共济失调而发展的患者进行筛查检测特定患者钙通道 1A -基因中CAG-三核苷酸重复序列的长度,如果基因组DNA含有相对于对照的大序列,则认为这些患者6型常染色体显性遗传性脊髓和小脑性共济失调的危险人群。该方法阐明了遗传疾病基因分型的有效方法。效果:更高的效率。 3厘升,4载重吨,8厘吨,2汤匙

著录项

  • 公开/公告号RU2195497C2

    专利类型

  • 公开/公告日2002-12-27

    原文格式PDF

  • 申请/专利权人 RISERCH DIVELOPMENT FAUNDEJSHN (US);

    申请/专利号RU19990116979

  • 发明设计人 LI CHENG-CHI (US);

    申请日1998-01-07

  • 分类号C12Q1/68;C12P19/34;C07H21/04;

  • 国家 RU

  • 入库时间 2022-08-21 23:44:07

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