日本泰-萨克斯病的分子遗传学 - Suppr

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Molecular genetics of Tay-Sachs disease in Japan.

作者信息

Tanaka A, Sakazaki H, Murakami H, Isshiki G, Suzuki K

机构信息

Department of Pediatrics, Osaka City University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1994;17(5):593-600. doi: 10.1007/BF00711597.

DOI:10.1007/BF00711597

PMID:7837766

Abstract

摘要

相似文献

Molecular genetics of Tay-Sachs disease in Japan.日本泰-萨克斯病的分子遗传学

J Inherit Metab Dis. 1994;17(5):593-600. doi: 10.1007/BF00711597.

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.欧洲泰-萨克斯病分子流行病学的协作研究。

Eur J Hum Genet. 1993;1(3):229-38. doi: 10.1159/000472416.

Molecular epidemiology of Tay-Sachs disease in Europe.欧洲泰-萨克斯病的分子流行病学

Biomed Pharmacother. 1994;48(8-9):341-6. doi: 10.1016/0753-3322(94)90048-5.

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.日本婴儿型泰-萨克斯病患者中的主要突变：β-己糖胺酶α基因第5内含子受体位点的G到T颠换。

Biochem Biophys Res Commun. 1993 Apr 30;192(2):539-46. doi: 10.1006/bbrc.1993.1449.

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.一名贝都因族泰-萨克斯病患者中与外显子跳跃和转录水平降低相关的新型HEXA突变。

Hum Mutat. 1997;9(3):260-4. doi: 10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B.

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.一名黎巴嫩儿童患幼年型泰-萨克斯病的遗传病因。

Ann Neurol. 1991 Jan;29(1):104-7. doi: 10.1002/ana.410290120.

Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.新型突变，包括在日本第二常见的β-己糖胺酶α亚基基因突变，以及对日本泰-萨克斯病患者的简易筛查。

J Hum Genet. 1999;44(2):91-5. doi: 10.1007/s100380050116.

Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells.唾液酸酶介导的泰-萨克斯病神经胶质细胞中GM2神经节苷脂的消耗。

Hum Mol Genet. 1999 Jun;8(6):1111-6. doi: 10.1093/hmg/8.6.1111.

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.一名患有泰-萨克斯病的阿什肯纳兹犹太患者的罕见基因型。

Hum Mutat. 1992;1(6):486-90. doi: 10.1002/humu.1380010606.

A null allele frequent in non-Jewish Tay-Sachs patients.

Hum Genet. 1993 Feb;90(6):614-20. doi: 10.1007/BF00202478.

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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.对一组埃及婴儿型泰萨二氏病患者的 HEXA 进行生化和突变分析。扩展突变谱。

Orphanet J Rare Dis. 2023 Mar 13;18(1):52. doi: 10.1186/s13023-023-02637-1.

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.使用计算机工具和同源建模对神经节苷脂贮积症突变进行基因型-表型关联分析

Mol Genet Metab Rep. 2019 Jul 17;20:100495. doi: 10.1016/j.ymgmr.2019.100495. eCollection 2019 Sep.

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.人β-己糖胺酶A的晶体结构：对泰-萨克斯突变及GM2神经节苷脂水解丧失的解释

J Mol Biol. 2006 Jun 16;359(4):913-29. doi: 10.1016/j.jmb.2006.04.004. Epub 2006 Apr 27.

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.伊拉克犹太泰-萨克斯病携带者中HEXA基因的特定突变：始祖祖先的追溯

Neurogenetics. 2004 Feb;5(1):35-40. doi: 10.1007/s10048-003-0166-8. Epub 2003 Nov 27.

Structural basis of the GM2 gangliosidosis B variant.GM2神经节苷脂贮积症B变异型的结构基础

J Hum Genet. 2003;48(11):582-9. doi: 10.1007/s10038-003-0082-7. Epub 2003 Oct 24.

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.日本患者中GM2神经节苷脂贮积症B型的不同减毒表型，这些患者在密码子499处存在HEXA突变，以及导致婴儿急性型的五个新突变。

J Hum Genet. 2003;48(11):571-4. doi: 10.1007/s10038-003-0080-9. Epub 2003 Oct 18.

本文引用的文献

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.非犹太裔泰-萨克斯病患者中HEXA基因的十个新突变。

Hum Mol Genet. 1993 Jan;2(1):61-7. doi: 10.1093/hmg/2.1.61.

Biochem Biophys Res Commun. 1993 Apr 30;192(2):539-46. doi: 10.1006/bbrc.1993.1449.

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.GM2神经节苷脂贮积症变异型，其中己糖胺酶A的底物特异性发生严重改变。

EMBO J. 1983;2(7):1201-5. doi: 10.1002/j.1460-2075.1983.tb01567.x.

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.患有泰-萨克斯病的德系犹太人和法裔加拿大非犹太人的不同突变

Science. 1986 Jun 27;232(4758):1646-8. doi: 10.1126/science.3754980.

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.一些患有泰-萨克斯病的阿什肯纳兹犹太人存在剪接连接突变：这一证据反驳了该族群存在单一缺陷的观点。

Proc Natl Acad Sci U S A. 1988 Jun;85(11):3955-9. doi: 10.1073/pnas.85.11.3955.

Identification of an altered splice site in Ashkenazi Tay-Sachs disease.在阿什肯纳齐家族性黑蒙性痴呆症中鉴定出一个改变的剪接位点。

Nature. 1988 May 5;333(6168):85-6. doi: 10.1038/333085a0.

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient.GM2神经节苷脂贮积症B1变异型：最初在一名波多黎各患者中发现的特定β-己糖胺酶α链突变具有广泛的地理和种族分布。

Biochem Biophys Res Commun. 1988 Oct 31;156(2):1015-9. doi: 10.1016/s0006-291x(88)80945-8.

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.编码人β-己糖胺酶β链的基因：α链和β链基因中内含子位置的广泛同源性。

Proc Natl Acad Sci U S A. 1988 Mar;85(6):1883-7. doi: 10.1073/pnas.85.6.1883.

Mutation in GM2-gangliosidosis B1 variant.GM2神经节苷脂贮积症B1变异型中的突变

J Neurochem. 1988 Jan;50(1):316-8. doi: 10.1111/j.1471-4159.1988.tb13266.x.

Organization of the gene encoding the human beta-hexosaminidase alpha-chain.编码人β-己糖胺酶α链的基因的组织方式。

J Biol Chem. 1987 Apr 25;262(12):5677-81.

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