Document Detail


Nucleotide sequence analysis of the delta beta-globin gene region in humans.
MedLine Citation:
PMID:  6311816     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The continuous DNA sequence of a 16.5-kilobase pair region encompassing the linked delta beta-globin gene cluster in humans is presented with a detailed restriction endonuclease map. There are 38 differences (0.5%) in comparison with published sequence data, corrected for errors in sequencing, resulting in polymorphic rates of 0.2% in exons and 0.76% in 5'-gene flanking regions. Fifteen changes result in the generation or elimination of restriction sites which may be useful in linkage disequilibrium studies. Two pairs of inverted Alu repeats, a pyrimidine-rich region 5' to delta, and (TG)n, (Pu/Py)n, and (ATTTT)n tracts 5' to beta are described. Dinucleotide frequencies and deviation from expected values approximated those found in total human genomic DNA. Regions of less than 50% A + T content were found associated with Alu sequences, a 150-base pair region immediately 5' to the beta gene, exon regions from both genes, and an area 3' to the beta gene. These regions also contained significantly lower than expected CpG levels compared to other regions, suggesting a possible relationship between DNA organizational patterns and functionally important regions. In addition, strand asymmetries in base composition in this region differ from those associated with the fetal globin genes.
Authors:
M Poncz; E Schwartz; M Ballantine; S Surrey
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of biological chemistry     Volume:  258     ISSN:  0021-9258     ISO Abbreviation:  J. Biol. Chem.     Publication Date:  1983 Oct 
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  2985121R     Medline TA:  J Biol Chem     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  11599-609     Citation Subset:  IM    
Data Bank Information
Bank Name/Acc. No.:
GENBANK/J00093;  J00094;  J00096;  J00158;  J00159;  J00160;  J00161;  J00162;  J00163;  J00164;  J00165;  J00166;  J00167;  J00168;  J00169;  J00170;  J00171;  J00172;  J00173;  J00174;  J00175;  J00177;  J00178;  J00179;  K01239;  K01890;  K02544;  M18047;  M19067
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MeSH Terms
Descriptor/Qualifier:
Base Composition
Base Sequence
Cloning, Molecular*
DNA Restriction Enzymes
Genes*
Genetic Variation
Globins / genetics*
Humans
Polymorphism, Genetic
Thalassemia / genetics
Grant Support
ID/Acronym/Agency:
AM16691/AM/NIADDK NIH HHS; HL07150/HL/NHLBI NIH HHS; HL28157/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
9004-22-2/Globins; EC 3.1.21.-/DNA Restriction Enzymes

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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