一个非犹太家庭中泰-萨克斯等位基因和桑德霍夫等位基因的分离
Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
作者信息
Lane A B, Young E, Jenkins T
出版信息
Am J Hum Genet. 1980 Nov;32(6):920-6.
Abstract
A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.
摘要
本文报告了一个非犹太家庭，其中泰-萨克斯病和桑德霍夫病的基因正在分离。两个等位基因均为杂合子的个体血清和白细胞总己糖胺酶水平较低，同时热不稳定己糖胺酶A（HEX A）的比例处于正常范围。在人群筛查项目中，这些个体不会被检测为泰-萨克斯病或桑德霍夫病的携带者。
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引用本文的文献
本文引用的文献
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Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.泰-萨克斯病中β-N-乙酰己糖胺酶模式的变化。
FEBS Lett. 1969 Aug;4(4):351-354. doi: 10.1016/0014-5793(69)80274-7.
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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。
Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.
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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.三种泰-萨克斯病变体中的酶改变与脂质储存
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Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.
Clin Chim Acta. 1973 Oct 12;48(2):153-8. doi: 10.1016/0009-8981(73)90360-4.
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Tay-Sachs disease--the use of tears for the detection of heterozygotes.泰-萨克斯病——利用眼泪检测杂合子。
N Engl J Med. 1973 Nov 15;289(20):1072-4. doi: 10.1056/NEJM197311152892006.
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Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes.人己糖胺酶的亚基结构得到验证：己糖胺酶同工酶的相互转换性。
Nature. 1975 Nov 20;258(5532):262-4. doi: 10.1038/258262a0.
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Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B.人源N-乙酰己糖胺酶A和B的化学特性及亚基结构
Biochemistry. 1976 Aug 10;15(16):3484-93. doi: 10.1021/bi00661a014.
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Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.人类GM2神经节苷脂沉积症中β-己糖胺酶缺乏症互补作用的研究。
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Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions.
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Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.桑德霍夫病杂合子中存在杂合己糖胺酶同工酶的证据。
Am J Hum Genet. 1979 May;31(3):281-9.
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