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A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

作者信息

Sperandeo M P, de Franchis R, Andria G, Sebastio G

出版信息

Am J Hum Genet. 1996 Dec;59(6):1391-3.

PMID:8940285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914867/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b09/1914867/a4034686112e/ajhg00025-0225-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b09/1914867/aaca2249d3ed/ajhg00025-0224-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b09/1914867/a4034686112e/ajhg00025-0225-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b09/1914867/aaca2249d3ed/ajhg00025-0224-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b09/1914867/a4034686112e/ajhg00025-0225-a.jpg

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1
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.在一名同型胱氨酸尿症患者中发现的一个68个碱基对的插入是一个常见变异，并且在胱硫醚β-合酶信使核糖核酸的可变剪接过程中被跳过。
Am J Hum Genet. 1996 Dec;59(6):1391-3.
2
Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations.
Thromb Haemost. 1997 Oct;78(4):1293.
3
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.意大利家族中因胱硫醚β-合酶缺乏导致的同型胱氨酸尿症的分子基础，以及四个新突变的报告。
Am J Hum Genet. 1995 Jun;56(6):1324-33.
4
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.胱硫醚β-合酶基因的突变分析：同型胱氨酸尿症患者中的一个剪接突变、两个错义突变和一个插入。突变简讯第120号。在线版。
Hum Mutat. 1998;11(4):332. doi: 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU15>3.0.CO;2-S.
5
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.中欧地区胱硫醚β-合酶缺乏症：同型胱氨酸尿症等位基因生化筛查与分子遗传学筛查之间的差异
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J Cent Nerv Syst Dis. 2020 Oct 9;12:1179573520962230. doi: 10.1177/1179573520962230. eCollection 2020.
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Cystathionine-β-Synthase: Molecular Regulation and Pharmacological Inhibition.胱硫醚-β-合酶：分子调控与药物抑制。

本文引用的文献

1
Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.血栓性血管疾病中血浆总同型半胱氨酸水平升高及5,10-亚甲基四氢叶酸还原酶基因677C→T突变
Am J Hum Genet. 1996 Jul;59(1):262-4.
2
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.轻度高同型半胱氨酸血症的分子遗传学分析：亚甲基四氢叶酸还原酶基因中的常见突变是心血管疾病的遗传风险因素。
Am J Hum Genet. 1996 Jan;58(1):35-41.
3
The skipping of constitutive exons in vivo induced by nonsense mutations.
Biomolecules. 2020 Apr 30;10(5):697. doi: 10.3390/biom10050697.
4
The Spectrum of Mutations of Homocystinuria in the MENA Region.中东和北非地区同型胱氨酸尿症的突变谱
Genes (Basel). 2020 Mar 20;11(3):330. doi: 10.3390/genes11030330.
5
Hyperhomocysteinemia as a Risk Factor and Potential Nutraceutical Target for Certain Pathologies.高同型半胱氨酸血症作为某些病症的危险因素和潜在的营养保健品作用靶点。
Front Nutr. 2019 Apr 24;6:49. doi: 10.3389/fnut.2019.00049. eCollection 2019.
6
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.叶酸代谢的遗传学与唐氏综合征患儿及其相关先天性心脏缺陷的母源性风险。
Front Genet. 2015 Jun 25;6:223. doi: 10.3389/fgene.2015.00223. eCollection 2015.
7
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.胱硫醚β-合酶缺乏症的血管并发症：同型半胱氨酸向硫化氢研究的未来方向。
Am J Physiol Heart Circ Physiol. 2011 Jan;300(1):H13-26. doi: 10.1152/ajpheart.00598.2010. Epub 2010 Oct 22.
8
Determinants of homocysteine levels in Ivorian rural population.科特迪瓦农村人口同型半胱氨酸水平的决定因素。
Int J Vitam Nutr Res. 2009 Sep;79(5-6):319-27. doi: 10.1024/0300-9831.79.56.319.
9
Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.鉴定人CBS 基因 c.[833T>C;844_845ins68]突变对应的肝胱硫醚-β-合酶 mRNA 序列。
Mol Cell Biochem. 2009 Dec;332(1-2):183-7. doi: 10.1007/s11010-009-0189-z. Epub 2009 Jul 11.
10
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.甲硫氨酸合成酶（A2756G）和胱硫醚β-合成酶（844ins68）的多态性与上消化道癌易感性
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无义突变在体内诱导组成型外显子跳跃。
Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317.
4
Nonsense mutations and diminished mRNA levels.无义突变与mRNA水平降低。
Nat Genet. 1993 Jul;4(3):219. doi: 10.1038/ng0793-219.
5
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.具有不同同型胱氨酸尿症表型的兄弟姐妹中的相同基因型：使用改进的细菌表达系统鉴定胱硫醚β-合酶中的三个突变。
Hum Mol Genet. 1994 Jul;3(7):1103-8. doi: 10.1093/hmg/3.7.1103.
6
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.一名对维生素B6无反应的同型胱氨酸尿症患者中一个顺式存在三个突变的胱硫醚β-合酶等位基因的特征分析
Hum Mol Genet. 1994 Oct;3(10):1883-6. doi: 10.1093/hmg/3.10.1883.
7
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.意大利家族中因胱硫醚β-合酶缺乏导致的同型胱氨酸尿症的分子基础，以及四个新突变的报告。
Am J Hum Genet. 1995 Jun;56(6):1324-33.
8
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.一种血管疾病的潜在遗传风险因素：亚甲基四氢叶酸还原酶的常见突变
Nat Genet. 1995 May;10(1):111-3. doi: 10.1038/ng0595-111.
9
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
Am J Hum Genet. 1988 Apr;42(4):550-9.
10
Hyperhomocysteinemia: an independent risk factor for vascular disease.高同型半胱氨酸血症：血管疾病的独立危险因素。
N Engl J Med. 1991 Apr 25;324(17):1149-55. doi: 10.1056/NEJM199104253241701.