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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.

DOI:10.1007/BF00282308
PMID:6298095
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。

相似文献

1
Mapping the alpha-globin genes in Hb J Mexico carriers.绘制墨西哥型血红蛋白J携带者中的α-珠蛋白基因图谱。
Hum Genet. 1982;62(2):164-6. doi: 10.1007/BF00282308.
2
Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna.α或β地中海贫血与血红蛋白J撒丁岛型双重杂合子的血红蛋白组成
Hemoglobin. 1984;8(5):497-507. doi: 10.3109/03630268408991734.
3
Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.携带血红蛋白Jα墨西哥型的家族的遗传学和生物合成研究:α地中海贫血与HbJ的关联
Hum Genet. 1978 Jun 9;42(2):189-99. doi: 10.1007/BF00283639.
4
alpha-globin gene deletions associated with Hb J Tongariki.与血红蛋白J汤加里基相关的α珠蛋白基因缺失
Br J Haematol. 1982 Jun;51(2):243-9.
5
Gene mapping of Malaysian alpha thalassemias with alpha and zeta globin gene probes.使用α和ζ珠蛋白基因探针进行马来西亚α地中海贫血的基因定位
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Proc Natl Acad Sci U S A. 1980 Nov;77(11):6874-8. doi: 10.1073/pnas.77.11.6874.
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Homozygous alpha thalassemia/Hb G Philadelphia.纯合子α地中海贫血/Hb G费城型
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The haematological puzzle of Hb J Cape Town is partly solved.血红蛋白J开普敦型的血液学谜题已部分解开。
Br J Haematol. 1986 Jun;63(2):363-7. doi: 10.1111/j.1365-2141.1986.tb05561.x.

引用本文的文献

1
Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis.α-珠蛋白基因簇中两个DNA多态性的关联:对遗传分析的意义。
Am J Hum Genet. 1983 Nov;35(6):1086-9.
2
Alpha-thalassemia haplotypes in the Algerian population.阿尔及利亚人群中的α地中海贫血单倍型
Hum Genet. 1987 Mar;75(3):272-6. doi: 10.1007/BF00281073.
3
Detection of a restriction site polymorphism within the human alpha-globin gene complex.人类α-珠蛋白基因复合体中限制性酶切位点多态性的检测。

本文引用的文献

1
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.两种不同的分子组织构成了α地中海贫血-2基因型的单个α珠蛋白基因。
J Clin Invest. 1980 Dec;66(6):1319-25. doi: 10.1172/JCI109984.
2
Mapping the alpha-globin genes in an Algerian HbH patient and his family.对一名阿尔及利亚血红蛋白H病患者及其家族中的α-珠蛋白基因进行定位。
Blood. 1980 Mar;55(3):511-6.
3
The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis.重复的人类α-珠蛋白基因:通过RNA分析测定的它们的相对表达
Hum Genet. 1985;69(2):144-6. doi: 10.1007/BF00293285.
Cell. 1981 May;24(2):345-51. doi: 10.1016/0092-8674(81)90324-x.
4
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin.人类α-珠蛋白α1和α2基因座的同源性与协同进化。
Nature. 1981 Mar 5;290(5801):26-9. doi: 10.1038/290026a0.
5
alpha-globin gene deletions associated with Hb J Tongariki.与血红蛋白J汤加里基相关的α珠蛋白基因缺失
Br J Haematol. 1982 Jun;51(2):243-9.
6
Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions.杂合子中血红蛋白G费城(α268天冬酰胺导致β2赖氨酸)的比例由α-珠蛋白基因缺失决定。
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6874-8. doi: 10.1073/pnas.77.11.6874.
7
Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans .非裔美国人中α G-费城与α地中海贫血的连锁关系
Proc Natl Acad Sci U S A. 1980 Aug;77(8):4885-9. doi: 10.1073/pnas.77.8.4885.
8
Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics.正常人和α地中海贫血患者中源自α1和α2珠蛋白基因座的mRNA转录本的分化
J Clin Invest. 1981 Aug;68(2):439-46. doi: 10.1172/jci110273.
9
The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.人类α-珠蛋白基因的染色体排列:序列同源性与α-珠蛋白基因缺失
Cell. 1980 May;20(1):119-30. doi: 10.1016/0092-8674(80)90240-8.
10
Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.一种因α珠蛋白基因复合体部分缺失导致的新型α地中海贫血1缺陷的特征分析。
Nucleic Acids Res. 1980 Nov 11;8(21):4889-98. doi: 10.1093/nar/8.21.4889.