Variation site IVS-II-1(G>A) DNA Change c.315+1G>A Zygosity Homozygous Allelic Frequency 100% Transcript NM_000518.5 Chr position(GRCh37) Chr11:5247806C>T Buffer Tris-EDTA Product Information Intended Use Research Use Only Unit Size 1ug ...
结果:先证者Aα链2号内含子IVS2+1G>T(c.180+1G>T)杂合突变,该突变导致先证者纤维蛋白原的聚集最大速率(t =443.069,P <0.001)、吸光度值差值(t =112.317,P <0.001)与凝固率(t =65.147,P <0.001)显著降低,SDS-PAGE发现...
Possible Associations of Splice Site Mutation of Dihydropyrimidine Dehydrogenase (IVS14+1G>A) in Adverse Drug Reactions in Some Invasive Ductal Carcinoma P... To determine the frequency of the IVS14+1GA mutation in the DPD gene in the South Indian population, we have carried out PCR based gen...
该突变位点是MYBPC3 基因15内含子的剪接位点的受体位点(IVS15-1G>A),其中3例携带者发病,表现为轻微的胸闷,胸痛和不对称性室间隔轻度肥厚(13～14 mm),发病较晚(48～75岁).MYH7基因未发现突变.结论 MYBPC3基因IVS15-1G>A突变是该HCM家系的致病突变,其携带者临床表型较好.对于症状轻微,发病较晚的HCM患者,首选...
其中8种突变(c.124_127delTTCT、c.52A>T、c.316-197C>T、c.-78A>G、c.216_217insA、c.79G>A、c.92+1G>T、c.-79A>G)占中国人β-地贫突变总体的95%以上[3]。随着测序技术在临床上的广泛运用,一些罕见突变类型也不断被发现,为临床遗传咨询和产前诊断提供了更多的依据[4-5]。本研究发现了2例罕...
Seeman P, Sakmaryova´ I (2006) High prevalence of the IVS1 + 1G to A/GJB2 mutation among Czech hearing impaired pa- tients with monoallelic mutation in the coding region of GJB2. Clin Genet 69:410-413.Seeman P, Sakmaryova´ I: High prevalence of the IVS 1+1 G to A/ GJB...
The mutation at the splice donor site of the first intervening sequence [IVS-I-1 (G>A)] of the ±2-globin gene, HBA2:c.95+1G>A, is thought to cause a thalassemic phenotype by interfering with and preventing the normal splicing of pre-mRNA. We developed an in vitro expression system...
To date, a total of 21 different mutations have been observed in Mexican patients; the four most frequent mutations are of Mediterranean origin: Cd39C>T (37.2%), IVS1:1G>A (17.3%), IVS1:110G>A (13.9%), and δβ-thal Spanish type (9.0%), which represent 77.4% of the total ...