请使用支持JavaScript的浏览器!
主营:分子类,蛋白类,抗体类,生化类试剂
banner
当前位置: 首页 > 产品中心 > > MRC-Holland b.v/SALSA MLPA Probemix P034 DMD mix 1/SALSA MLPA Probemix P034 DMD mix 1 – 25 rxn/P034-025R
产品分类

MRC-Holland b.v/SALSA MLPA Probemix P034 DMD mix 1/SALSA MLPA Probemix P034 DMD mix 1 – 25 rxn/P034-025R

MRC-Holland b.v/SALSA MLPA Probemix P034 DMD mix 1/SALSA MLPA Probemix P034 DMD mix 1 – 25 rxn/P034-025R
  • MRC-Holland b.v/SALSA MLPA Probemix P034 DMD mix 1/SALSA MLPA Probemix P034 DMD mix 1 – 25 rxn/P034-025R
商品介绍
Intended use: The SALSA MLPA probemixes P034 DMD-1 and P035 DMD-2 are in vitro diagnostic (IVD)1 or research use only (RUO) assays for the detection of exon deletions or duplications in the human DMD gene as a cause for Duchenne muscular dystrophy and/or Becker muscular dystrophy and for carrier screening thereof. These assays can be used with human DNA derived from peripheral blood, (un)cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, (un)cultured chorionic villi free from maternal contamination, or fetal blood.In the majority of patients, most defects in the DMD gene are copy number variations (CNVs), however point mutations can occur which will not be detected by MLPA. It is therefore recommended to use these SALSA MLPA probemixes in combination with sequence analysis. Copy number changes detected by only a single probe always require validation by another method. These probemixes are not intended to be used as standalone assays for clinical decisions. The results of these tests should be interpreted by a clinical molecular geneticist or equivalent.1Please note that these probemixes are for In Vitro Diagnostic (IVD) use in the countries specified at the end of this product description. In all other countries, the product is for Research Use Only (RUO).Clinical background: Germline defects in the dystrophin (DMD) gene are the most frequent cause of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD and BMD occur almost exclusively in males as they are inherited in an X-linked recessive manner. DMD usually has an early onset in childhood with delayed milestones, which include delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty in climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by the age of 13. Respiratory complications and cardiomyopathy occur in individuals with DMD after the age of 18 and a few survive beyond the third decade of life. In contrast, BMD has a slower rate of progression and patients on average survive until their mid-40s. More information on both conditions is available at http://www.ncbi.nlm.nih.gov/books/NBK1119/.Deletions and duplications of complete exons in the DMD gene are the most frequent cause of DMD/BMD and are usually missed by standard sequence analysis. Most of these deletions and duplications can be detected by the MLPA technique and hence MLPA complements sequence analysis of the DMD gene. The frequency of deletions/duplications in the DMD gene in DMD/BMD patients has been estimated at 60-70% for deletions and 5-10% for duplications (http://www.ncbi.nlm.nih.gov/books/NBK1119/). Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies have been published by Abbs et al. (2010).Probemix content: The SALSA MLPA Probemix P034-B2 DMD-1 contains 49 MLPA probes with amplification products between 130 and 500 nucleotides (nt). The SALSA MLPA Probemix P035-B1 DMD-2 contains 48 MLPA probes with amplification products between 130 and 500 nt. The P034-B2 and P035-B1 probemixes together contain one probe for each of the 79 DMD exons included in transcript variant Dp427m. In addition, one probe is present in P035-B1 for the alternative promoter/exon 1 found in transcript variant Dp427c. Performing two MLPA reactions, one with P034-B2 and one with P035-B1, is thus sufficient to investigate the copy number of all DMD exons. P034-B2 and P035-B1 contain nine and eight reference probes, respectively. These reference probes detect locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).These probemixes contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.
品牌介绍

MLPA产品包括产前诊断、遗传性肿瘤、各类遗传病、药物基因组学、mRNA、甲基化检测等。新的产品还在不断增加中。MLPA 产品包装灵活,用户可以根据需要购买一种试剂盒,也可以购买任意三种的组合。



多重连接探针扩增技术(Multiplex ligation-dependent probe amplification, MLPA)利用核酸杂交、连接反应和 PCR 扩增反应,可以在同一试管内检测多达45个不同核酸序列拷贝数变化。该方法自荷兰的Dr. Schouten JP于2002年发明以来,已广泛应用于染色体异常研究、基因点突变研究、基因缺失突变研究、基因甲基化研究、癌症研究及 mRNA 表达研究等领域。MRC-Holland b.v. 已开发了 135 种检测人类遗传和肿瘤基因的试剂盒。


自营商城图标
厂家直采
全球直采模式 正品优价
正品保障图标
正品保障
厂家直发 有线跟踪
解放采购图标
正规清关
CIF100%正规报关,提供发票
及时交付图标
及时交付
限时必达 不达必赔
  • 服务热线:
    4000-520-616

    固话:
    0512-67156496

    手机:
    18915418616

    邮箱:
    info@ebiomall.com
    工作时间:
    9:00 - 18:00
  • -平行进口 原厂直采-

    立即搜索

    我们与欧美近百家中小品牌签订代理,近千家海外生物有合作,可以帮忙代购,免费询价.您也可以加入我们QQ群[616054153]
    或者扫上面微信[ebiomall08],加我好友,备注:进群,我们会第一时间拉你进销售咨询群
  • 收起>>