在印度复发和小说GLB1突变。
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Bidchol,中间人,Trivedi R,舒克拉,Nampoothiri年代,Sankar VH, Danda年代,古普塔N, Kabra M, Hebbar SA Bhat,马塔D, Ekbote AV,宫殿RD, Phadke SR, Gowrishankar K, Aggarwal年代,Ranganath P, Sharda年代,Kamate M,塔尔CA, Bhat K, Kamath N,沙H,克里希纳年代,Gopinath点,胆量IC, Nagarajaram哈,Satyamoorthy K, Girisha公里
在印度复发和小说GLB1突变。
基因。2015年8月10日,567 (2):173 - 81。doi: 10.1016 / j.gene.2015.04.078。Epub 2015年4月30日。
- PubMed ID
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25936995 (在PubMed]
- 文摘
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GM1 gangliosidosis是一种溶酶体储存障碍引起的GLB1基因的突变,导致酶的缺乏beta-d-galactosidase。在这项研究中,我们报告分子发现50亚洲印度家庭GM1 gangliosidosis。我们所有的外显子测序和侧翼intronic GLB1基因序列。我们确定了33个不同突变(20小说和13之前报道)。这部小说包含12个错义突变(p.M1 ?,p。E129Q, p。G134R, p。L236P, p。G262E, p。L297F, p。Y331C, p。G414V, p。K493N, p。L514P, p。P597L p.T600I),四个拼接(c。246 - 2 > G、c。397 - 2 > G、c。552 + 1 G > T, c.956-2A > G),三个indels (p。R22Qfs * 8, p。L24Cfs * 47岁p.I489Qfs * 4)和一个无义突变(p.Q452 *)。本研究中最常见的突变确定c。75 + 2本月(14%)和p。L337P (10%)。 Known mutations accounted for 67% of allele frequency in our cohort of patients, suggesting that these mutations in GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, beta-domain 1 and beta-domain 2. In silico sequence and structure analysis of GLB1 reveal that all the novel mutations affect the function and structure of the protein. We hereby report on the largest series of patients with GM1 gangliosidosis and the first from India.