Nucleic Acids Res. 1981 Oct 10;9(19):5037-47.

Duplication/deletion polymorphism 5' - to the human beta globin gene.

Abstract

DNA sequence analysis of the human beta globin locus has identified an array of simple tandem repeated sequences upstream from the beta globin structural gene. Comparison of several cloned human beta globin alleles demonstrated a high frequency of sequence heteromorphism at this site apparently due to duplication or deletion of single units of the repeat array. At least two such duplication/deletion events are necessary to account for the observed variation. No other sequence variation was observed, suggesting that duplication/deletion events within the tandem repeat array may be at least 13 to 14 times more frequent than nucleotide substitutions in the surrounding DNA.

PMID:: 7312624; [PubMed - indexed for MEDLINE]
PMCID:: PMC327497

Free PMC Article

LinkOut - more resources

Full Text Sources

Medical

HBB Gene - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. [Genomics. 1990]
Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.
Henthorn PS, Smithies O, Mager DL. Genomics. 1990 Feb; 6(2):226-37.
Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee. [J Mol Biol. 1985]
Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee.
Savatier P, Trabuchet G, Faure C, Chebloune Y, Gouy M, Verdier G, Nigon VM. J Mol Biol. 1985 Mar 5; 182(1):21-9.
Cloning and characterization of DNA sequences surrounding the human gamma-, delta-, and beta-globin genes. [Proc Natl Acad Sci U S A. 1980]
Cloning and characterization of DNA sequences surrounding the human gamma-, delta-, and beta-globin genes.
Kaufman RE, Kretschmer PJ, Adams JW, Coon HC, Anderson WF, Nienhuis AW. Proc Natl Acad Sci U S A. 1980 Jul; 77(7):4229-33.
Review Structure and organization of the human globin genes. [Tex Rep Biol Med. 1980]
Review Structure and organization of the human globin genes.
Forget BG. Tex Rep Biol Med. 1980-1981; 40:77-86.
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...

Cited by 14 PubMed Central articles

A pentanucleotide repeat polymorphism in the 5' control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians. [J Clin Invest. 1995]
A pentanucleotide repeat polymorphism in the 5' control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians.
Trommsdorff M, Köchl S, Lingenhel A, Kronenberg F, Delport R, Vermaak H, Lemming L, Klausen IC, Faergeman O, Utermann G. J Clin Invest. 1995 Jul; 96(1):150-7.
The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences. [Nucleic Acids Res. 1982]
The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.
Moschonas N, de Boer E, Flavell RA. Nucleic Acids Res. 1982 Mar 25; 10(6):2109-20.
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. [EMBO J. 1984]
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG. EMBO J. 1984 Mar; 3(3):593-6.

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
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
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.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Duplication/deletion polymorphism 5' - to the human beta globin gene.
Duplication/deletion polymorphism 5' - to the human beta globin gene.
Nucleic Acids Res. 1981 Oct 10 ;9(19):5037-47.

PubMed
Neurogenic and vascular claudication.
Neurogenic and vascular claudication.
J Neurol Sci. 1978 Oct ;38(3):337-45.

PubMed
Family socialization and adolescent personality and their association with adole...
Family socialization and adolescent personality and their association with adolescent use of marijuana.
J Genet Psychol. 1978 Dec ;133(2d Half):261-71.

PubMed
Suicide rates in the Lundby study: mental illness as a risk factor for suicide.
Suicide rates in the Lundby study: mental illness as a risk factor for suicide.
Neuropsychobiology. 1981 ;7(5):248-53.

PubMed
A new murine model of accelerated senescence.
A new murine model of accelerated senescence.
Mech Ageing Dev. 1981 Oct ;17(2):183-94.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Duplication/deletion polymorphism 5' - to the human beta globin gene.

Abstract

Publication Types, MeSH Terms, Substances, Secondary Source ID

Publication Types

MeSH Terms

Substances

Secondary Source ID

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 14 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information