Hum Genet. 1990 Oct;85(5):509-12.

Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.

Mamalaki A, Horanyi M, Szelenyi J, Moschonas NK.

Source

Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology, Heraklion, Greece.

Abstract

We have used the powerful methodology of DNA enzymatic amplification in order to assign human alpha-globin structural mutants to one of the two highly homologous alpha-globin genes. Selectively amplified alpha 1 and alpha 2-globin cDNAs were dot-blotted and further hybridized to synthetic oligonucleotides encompassing either the normal or the mutated sequences. The generated signals corresponded specifically to one of the two alpha-globin genes. Using this approach the alpha-globin structural mutants J-Buda and G-Pest were found to be encoded by the alpha 2 and the alpha 1-globin genes, respectively. Furthermore, the exact nucleotide changes were determined. We propose this technique to serve as a simple and definitive method for assigning alpha-globin structural mutants.

PMID:: 2227935; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

EBSCO

Medical

Supplemental Content

Save items

Related citations in PubMed

Locus assignment of human alpha globin mutations by selective amplification and direct sequencing. [Br J Haematol. 1990]
Locus assignment of human alpha globin mutations by selective amplification and direct sequencing.
Dodé C, Rochette J, Krishnamoorthy R. Br J Haematol. 1990 Oct; 76(2):275-81.
Locus assignment of alpha-globin structural mutations by hybrid-selected translation. [J Clin Invest. 1985]
Locus assignment of alpha-globin structural mutations by hybrid-selected translation.
Liebhaber SA, Cash FE. J Clin Invest. 1985 Jan; 75(1):64-70.
Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse. [Mamm Genome. 1993]
Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse.
Kielman MF, Smits R, Devi TS, Fodde R, Bernini LF. Mamm Genome. 1993; 4(6):314-23.
Review Alpha-thalassaemia. [Baillieres Clin Haematol. 1998]
Review Alpha-thalassaemia.
Bernini LF, Harteveld CL. Baillieres Clin Haematol. 1998 Mar; 11(1):53-90.
Review Use of long sequence alignments to study the evolution and regulation of mammalian globin gene clusters. [Mol Biol Evol. 1993]
Review Use of long sequence alignments to study the evolution and regulation of mammalian globin gene clusters.
Hardison R, Miller W. Mol Biol Evol. 1993 Jan; 10(1):73-102.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

Recent activity

Clear Turn Off Turn On

Locus assignment of human alpha-globin structural mutants by selective enzymatic...
Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.
Hum Genet. 1990 Oct ;85(5):509-12.

PubMed
Treatment of gabapentin-induced myoclonus with continuous renal replacement ther...
Treatment of gabapentin-induced myoclonus with continuous renal replacement therapy.
Indian J Nephrol. 2012 Jan ;22(1):59-61.

PubMed
Identification of a compound heterozygote for adenine phosphoribosyltransferase ...
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Hum Genet. 1990 Oct ;85(5):500-4.

PubMed
Predictors of quality of life of hemodialysis patients in India.
Predictors of quality of life of hemodialysis patients in India.
Indian J Nephrol. 2012 Jan ;22(1):18-25.

PubMed
Increased excitatory synaptic input to granule cells from hilar and CA3 regions ...
Increased excitatory synaptic input to granule cells from hilar and CA3 regions in a rat model of temporal lobe epilepsy.
J Neurosci. 2012 Jan 25 ;32(4):1183-96.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: