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Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.

作者信息

Tayebi N, Cushner S, Sidransky E

出版信息

Am J Hum Genet. 1996 Sep;59(3):740-1.

PMID:8751878
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914901/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ca/1914901/12cfd4bd61fe/ajhg00022-0255-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ca/1914901/12cfd4bd61fe/ajhg00022-0255-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ca/1914901/12cfd4bd61fe/ajhg00022-0255-a.jpg

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1
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.通过长模板PCR区分葡萄糖脑苷脂酶基因与假基因：对戈谢病的意义
Am J Hum Genet. 1996 Sep;59(3):740-1.
2
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.某些戈谢病患者中55个碱基对的缺失使常见戈谢等位基因的筛查变得复杂。
Am J Med Genet. 1996 Dec 18;66(3):316-9. doi: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P.
3
High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.正常人和戈谢病患者中葡萄糖脑苷脂酶假基因的高水平转录。
J Clin Invest. 1990 Oct;86(4):1137-41. doi: 10.1172/JCI114818.
4
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.一种用于展示葡萄糖脑苷脂酶基因突变分析过程中陷阱的简单非同位素方法。
J Med Genet. 2001 Oct;38(10):E34. doi: 10.1136/jmg.38.10.e34.
5
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.非戈谢病细胞中人类葡萄糖脑苷脂酶假基因的一种新型转录本。
Gene. 1993 Dec 22;136(1-2):365-8. doi: 10.1016/0378-1119(93)90497-q.
6
Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis.
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A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.戈谢病中的葡萄糖脑苷脂酶融合基因。对该疾病分子解剖学、发病机制及诊断的意义。
J Clin Invest. 1990 Jan;85(1):219-22. doi: 10.1172/JCI114415.
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).葡萄糖脑苷脂酶基因和假基因中的多态性促使在戈谢病等位基因c.1448T>C（L444P）的临床分析中要谨慎。
BMC Med Genet. 2006 Aug 3;7:69. doi: 10.1186/1471-2350-7-69.
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A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.由于葡糖脑苷脂酶基因内含子2发生重组而产生的一种新的基因-假基因融合等位基因导致戈谢病。
Blood Cells Mol Dis. 2000 Oct;26(5):409-16. doi: 10.1006/bcmd.2000.0317.
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Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.葡萄糖脑苷脂酶假基因变异与戈谢病：识别GBA等位基因中的假基因片段
Hum Mutat. 2001 Mar;17(3):191-8. doi: 10.1002/humu.4.

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The relationship between glucocerebrosidase mutations and Parkinson disease.葡萄糖脑苷脂酶突变与帕金森病之间的关系。
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A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

本文引用的文献

1
Structure and organization of the human metaxin gene (MTX) and pseudogene.
Genomics. 1996 Apr 15;33(2):177-84. doi: 10.1006/geno.1996.0181.
2
Clinical heterogeneity among patients with Gaucher's disease.
JAMA. 1993 Mar 3;269(9):1154-7.
3
Identification of six new Gaucher disease mutations.六种新的戈谢病突变的鉴定。
Genomics. 1993 Jan;15(1):203-5. doi: 10.1006/geno.1993.1035.
4
两个戈谢病家系中的胚系或新生突变：对隐性疾病的影响。
Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.
4
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.戈谢病中的肺血管疾病：临床谱、表型决定因素和治疗的长期结局。
J Inherit Metab Dis. 2011 Jun;34(3):643-50. doi: 10.1007/s10545-011-9313-9. Epub 2011 Mar 29.
5
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).葡萄糖脑苷脂酶基因和假基因中的多态性促使在戈谢病等位基因c.1448T>C（L444P）的临床分析中要谨慎。
BMC Med Genet. 2006 Aug 3;7:69. doi: 10.1186/1471-2350-7-69.
6
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.葡糖脑苷脂酶基因区域的相互和非相互重组：对戈谢病复杂性的影响。
Am J Hum Genet. 2003 Mar;72(3):519-34. doi: 10.1086/367850. Epub 2003 Feb 13.
7
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.1型和3型戈谢病患者中304个突变等位基因的分析与分类
Am J Hum Genet. 2000 Jun;66(6):1777-86. doi: 10.1086/302925. Epub 2000 May 4.
8
Type 2 Gaucher disease: the collodion baby phenotype revisited.2型戈谢病：再探火棉胶婴儿表型
Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6. doi: 10.1136/fn.82.2.f163.
9
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.使用通用引物通过荧光辅助错配分析对酸性β-葡萄糖苷酶基因进行全面筛查：戈谢病的突变谱及基因型/表型相关性
Am J Hum Genet. 1998 Aug;63(2):415-27. doi: 10.1086/301969.
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
32名非亲属关系的日本戈谢病患者的基因突变特征：不存在常见的犹太人群84GG和1226G突变。
Hum Genet. 1995 Jun;95(6):717-20. doi: 10.1007/BF00209497.
5
The molecular biology of Gaucher disease and the potential for gene therapy.戈谢病的分子生物学及基因治疗潜力
Cold Spring Harb Symp Quant Biol. 1986;51 Pt 2:1047-52. doi: 10.1101/sqb.1986.051.01.121.
6
The human glucocerebrosidase gene and pseudogene: structure and evolution.人类葡萄糖脑苷脂酶基因与假基因：结构与进化
Genomics. 1989 Jan;4(1):87-96. doi: 10.1016/0888-7543(89)90319-4.
7
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.戈谢病中的葡萄糖脑苷脂酶融合基因。对该疾病分子解剖学、发病机制及诊断的意义。
J Clin Invest. 1990 Jan;85(1):219-22. doi: 10.1172/JCI114415.
8
Polymorphisms in the human glucocerebrosidase gene.
Genomics. 1992 Apr;12(4):795-800. doi: 10.1016/0888-7543(92)90311-f.