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绘制墨西哥型血红蛋白J携带者中的α-珠蛋白基因图谱。

Mapping the alpha-globin genes in Hb J Mexico carriers.

作者信息

Trabuchet G, Morle F, Verdier G, Godet J, Benabadji M, Nigon V M

出版信息

Hum Genet. 1982;62(2):164-6. doi: 10.1007/BF00282308.

Abstract

The organization of the alpha-globin genes was studied by restriction endonuclease mapping, in subjects carrying the alpha variant Hb J Mexico. A subject homozygous for Hb J synthesized both Hb J (about 55%) and Hb A and had two alpha loci per chromosome. His restriction site map was found to be identical to that obtained with a normal DNA, except for a mutant Bgl II site which was observed on the Hb J chromosome proximal to the 5' alpha-locus. We have also mapped the DNA of a compound heterozygote for Hb J and alpha-thalassemia, who synthesizes 38% Hb J and we have found a single alpha gene corresponding to a - alpha 3.7 haplotype on one chromosome and two alpha genes, respectively alpha J and alpha A, on the other.

摘要

通过限制性内切酶图谱分析,对携带α变体血红蛋白J墨西哥型(Hb J Mexico)的受试者进行了α珠蛋白基因组织的研究。一名Hb J纯合子受试者合成了Hb J(约55%)和Hb A,每条染色体有两个α基因座。发现他的限制性酶切位点图谱与正常DNA获得的图谱相同,只是在靠近5'α基因座的Hb J染色体上观察到一个突变的Bgl II位点。我们还绘制了一名Hb J和α地中海贫血复合杂合子的DNA图谱,该受试者合成38%的Hb J,我们发现一条染色体上有一个对应于-α3.7单倍型的单个α基因,另一条染色体上有两个α基因,分别是αJ和αA。

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