Prenatal diagnosis of thalassaemia.
作者信息
Weatherall D J
出版信息
Br Med J (Clin Res Ed). 1984 May 5;288(6427):1321-2. doi: 10.1136/bmj.288.6427.1321.
Abstract
摘要
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本文引用的文献
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Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five cases.马来亚的α链地中海贫血与胎儿水肿：五例报告。
Blood. 1962 Nov;20:581-90.
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Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.X染色体短臂上一个克隆DNA序列与杜氏肌营养不良症的连锁关系。
Nature. 1982 Nov 4;300(5887):69-71. doi: 10.1038/300069a0.
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Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.通过与合成寡核苷酸杂交检测镰状细胞βS-珠蛋白等位基因。
Proc Natl Acad Sci U S A. 1983 Jan;80(1):278-82. doi: 10.1073/pnas.80.1.278.
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A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
5
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.克隆的人类苯丙氨酸羟化酶基因可用于经典型苯丙酮尿症的产前诊断和携带者检测。
Nature. 1983;306(5939):151-5. doi: 10.1038/306151a0.
6
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.妊娠早期镰状细胞贫血的产前诊断。
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alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.通过对基因中的突变进行直接分析来检测α1-抗胰蛋白酶缺乏症。
Nature. 1983;304(5923):230-4. doi: 10.1038/304230a0.
8
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.利用DNA多态性进行产前诊断。关于95例镰状细胞病或β地中海贫血高危妊娠的报告。
N Engl J Med. 1983 May 5;308(18):1054-8. doi: 10.1056/NEJM198305053081803.
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Molecular cloning of the gene for human anti-haemophilic factor IX.人抗血友病因子IX基因的分子克隆
Nature. 1982 Sep 9;299(5879):178-80. doi: 10.1038/299178a0.
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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.人类β-珠蛋白基因簇中β-地中海贫血突变及β-珠蛋白基因多态性与DNA多态性的连锁关系
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