This set of dPCR assays can accurately and reliably measure the number of SMN1 and SMN2 copies in DNA samples. In a cohort of SMA patient鈥揹erived cell lines, the assay confirmed a strong inverse correlation between SMN2 CN and disease severity. We can detect SMN1鈥揝MN2 gene conversion...
领航基因利用自主研发的多色荧光通道数字 PCR 平台,针对SMN基因设计特异性引物探针,进行绝对定量分析。从基因组DNA提取、微滴制备、PCR 扩增到芯片阅读分析,全流程在3小时内完成SMN1和SMN2基因拷贝数分析,相比于常规检测方法,数字PCR解决方案覆盖位点全、定量结果精准、操作便捷。
脊髓性肌萎缩症（spinal muscular atrophy，SMA）是由于运动神经元存活基因1（survival motor neuron gene 1, ）突变导致SMN蛋白功能缺陷所致的遗传性神经肌肉病，遵循常染色体隐性遗传模式。SMA患者脊髓前角运动神经元退化变性和丢失，会导致肌无力和骨骼肌萎缩，肢体麻痹，呼吸衰竭和死亡。SMA的发病率约为1/6000-10000...
Erratum: Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 B. Wilson, "Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1," European Journal of Human Genetics... Shuji,Ogino,Sizhen,......
Index >Products >SMA-SMN1/2 >-Enquiry product informationadd product+ Item No Product Name Pre-order Operate CBPD0018SMN1 Loss/SMN2 Loss Reference Standardremove Inquiry description Contact: Company Name: Phone: Email: Verification Code:
The SMN complex plays a catalyst role in the assemble of small nuclear ribonucleoproteins, the building blocks of the spliceosome. Mutations in the SMN1 gene are known to cause spinal muscular atrophy 1/2. 仅用于科研。不用于诊断过程。未经明确授权不得转售。
doi:10.1016/S0387-7604(01)00234-0elsevierBrain & DevelopmentDiep Tran, T., et al. (2001) The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy, Brain Dev, 23, 321-326.
Chen TH, Tzeng CC, Wang CC, Wu SM, Chang JG, Yang SN, Hung CH, Jong YJ: Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population. J Neurol Sci 2011; 308:83-87....
The frequency of homozygous isolated deletion of the SMN1 gene exon 7 among the SMA patients was 4.3%. Homozygous deletion of exon 5 of the NAIP gene was found in 22% of SMA patients. In SMA patients, a total of seven deletion types involving the SMN1 , NAIP , and SMN2 genes were ...
(2006). SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67, 1147-1150. doi: 10.1212/01.wnl.0000233830.85206.1eCorcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR (2006) SMN1 gene, but not SMN2, is a ...