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相似文献

1
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.以色列德系犹太人中天冬氨酸酰基转移酶基因C854突变的频率。
Am J Hum Genet. 1994 Aug;55(2):287-8.
2
Canavan disease: mutations among Jewish and non-Jewish patients.卡纳万病：犹太患者和非犹太患者中的突变情况。
Am J Hum Genet. 1994 Jul;55(1):34-41.
3
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中八个新突变的鉴定与表达
Am J Hum Genet. 1996 Jul;59(1):95-102.
4
Canavan disease: diagnosis and molecular analysis.卡纳万病：诊断与分子分析
Genet Test. 1997;1(1):21-5. doi: 10.1089/gte.1997.1.21.
5
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.天冬氨酸酰基转移酶基因中Y231位点DNA多态性的频率及其对阿什肯纳兹犹太人群中基于DNA的卡纳万病携带者检测的影响。
Hum Mutat. 1998;Suppl 1:S161-2. doi: 10.1002/humu.1380110154.
6
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.卡纳万病：德系犹太人中携带者频率的测定及一种新型分子诊断检测方法的开发。
Am J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334.
7
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.17例Canavan病患者天冬氨酸酰基转移酶基因突变检测：非犹太人群中的4种新突变
Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477.
8
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.欧洲非犹太裔患者中卡纳万病（天冬氨酸酰基转移酶缺乏症）的分子基础。
Am J Hum Genet. 1995 Sep;57(3):572-80.
9
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.通过DNA分析对卡纳万病（天冬氨酸酰基转移酶缺乏症）进行产前检测。
J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008.
10
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.非犹太裔患者中卡纳万病中天冬氨酸酰基转移酶基因突变谱。
J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.

引用本文的文献

1
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.天冬氨酸酰基转移酶的细胞和分子机制及其在卡纳万病中的作用。
Cell Biosci. 2024 Apr 6;14(1):45. doi: 10.1186/s13578-024-01224-6.
2
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.一个错义突变（p.G274R）在 ASPA 基因中导致一个巴基斯坦家族的 Canavan 病。
Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5.
3
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.16 种阿什肯纳兹犹太人遗传病的携带者筛查和产前诊断经验。
Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327.
4
Mutational analysis of aspartoacylase: implications for Canavan disease.天冬氨酸酰基转移酶的突变分析：对卡纳万病的意义。
Brain Res. 2007 May 7;1148:1-14. doi: 10.1016/j.brainres.2007.02.069. Epub 2007 Mar 3.
5
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.天冬氨酸酰基转移酶的结构，该脑酶在卡纳万病中受损。
Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):456-61. doi: 10.1073/pnas.0607817104. Epub 2006 Dec 28.
6
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中天冬氨酸酰基转移酶基因新突变的鉴定与特征分析。
J Inherit Metab Dis. 2002 Nov;25(7):557-70. doi: 10.1023/a:1022091223498.
7
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.非犹太裔患者中卡纳万病中天冬氨酸酰基转移酶基因突变谱。
J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.
8
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中八个新突变的鉴定与表达
Am J Hum Genet. 1996 Jul;59(1):95-102.
9
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.通过DNA分析对卡纳万病（天冬氨酸酰基转移酶缺乏症）进行产前检测。
J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008.
10
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.欧洲非犹太裔患者中卡纳万病（天冬氨酸酰基转移酶缺乏症）的分子基础。
Am J Hum Genet. 1995 Sep;57(3):572-80.

本文引用的文献

1
Gaucher disease: gene frequencies in the Ashkenazi Jewish population.戈谢病：德系犹太人种群中的基因频率
Am J Hum Genet. 1993 Jan;52(1):85-8.
2
Protracted clinical course for patients with Canavan disease.卡纳万病患者的临床病程迁延。
Dev Med Child Neurol. 1993 Apr;35(4):355-8. doi: 10.1111/j.1469-8749.1993.tb11649.x.
3
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.人天冬氨酸酰基转移酶cDNA的克隆及Canavan病中的一个常见错义突变
Nat Genet. 1993 Oct;5(2):118-23. doi: 10.1038/ng1093-118.
4
Spongy degeneration of the brain in Israel: a retrospective study.
Clin Genet. 1983 Jan;23(1):23-9. doi: 10.1111/j.1399-0004.1983.tb00432.x.
5
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.Canavan病患者的天冬氨酸酰基转移酶缺乏症和N-乙酰天冬氨酸尿症。
Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.
6
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.
J Inherit Metab Dis. 1988;11(3):307-8. doi: 10.1007/BF01800378.
7
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.对五种突变进行筛查可检测出97%的囊性纤维化（CF）染色体，并预测在犹太阿什肯纳兹人群中携带者频率为1:29。
Am J Hum Genet. 1992 Nov;51(5):951-6.

以色列德系犹太人中天冬氨酸酰基转移酶基因C854突变的频率。

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

作者信息

Elpeleg O N, Anikster Y, Barash V, Branski D, Shaag A

机构信息

Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

出版信息

Am J Hum Genet. 1994 Aug;55(2):287-8.

PMID:8037206
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918378/
Abstract

Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been reported in Ashkenazi Jewish families. The primary enzymatic defect is aspartoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD and 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutation. All 18 patients were homozygotes for the mutation, and 15 heterozygotes were found among the healthy individuals. The results disclose a carrier rate of 1:59 and suggest that a screening for the mutation is warranted among Ashkenazi Jewish couples.

摘要

卡纳万病（CD）是一种婴儿期神经退行性疾病，以常染色体隐性方式遗传，主要在德系犹太人家庭中报道。主要的酶缺陷是天冬氨酸酰基转移酶缺乏，最近报道了cDNA核苷酸854处的A到C转换。我们对18例卡纳万病患者和879名健康个体（均为以色列德系犹太人）进行了该突变的筛查。所有18例患者均为该突变的纯合子，在健康个体中发现了15例杂合子。结果显示携带率为1:59，并表明对德系犹太夫妇进行该突变的筛查是有必要的。