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Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.

作者信息

Oehme R, Kohne E, Kleihauer E, Horst J

出版信息

Hum Genet. 1983;64(4):376-9. doi: 10.1007/BF00292370.

DOI:10.1007/BF00292370
PMID:6311728
Abstract

Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant beta-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the delta-beta A- and delta-beta Mi-globin gene regions.

摘要

相似文献

1
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.
Hum Genet. 1983;64(4):376-9. doi: 10.1007/BF00292370.
2
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本文引用的文献

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Chemical studies of several varieties of Hb M.几种血红蛋白M变种的化学研究。
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Analysis of the Hb M Milwaukee mutation at the DNA level.
Br J Haematol. 1983 Aug;54(4):643-8. doi: 10.1111/j.1365-2141.1983.tb02144.x.
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Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
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Polymorphic DNA region adjacent to the 5' end of the human insulin gene.人类胰岛素基因5'端相邻的多态性DNA区域。
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63. doi: 10.1073/pnas.78.9.5759.
7
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.人类β-珠蛋白基因剪接位点处的核苷酸变化与β0-地中海贫血相关。
Proc Natl Acad Sci U S A. 1981 Jul;78(7):4218-21. doi: 10.1073/pnas.78.7.4218.
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The nucleotide sequence of the human beta-globin gene.人类β-珠蛋白基因的核苷酸序列。
Cell. 1980 Oct;21(3):647-51. doi: 10.1016/0092-8674(80)90428-6.
9
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.通过DNA分析改进镰状突变检测：在产前诊断中的应用
N Engl J Med. 1982 Jul 1;307(1):32-6. doi: 10.1056/NEJM198207013070106.
10
Detection of specific sequences among DNA fragments separated by gel electrophoresis.在通过凝胶电泳分离的DNA片段中检测特定序列。
J Mol Biol. 1975 Nov 5;98(3):503-17. doi: 10.1016/s0022-2836(75)80083-0.