Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.

Blood - 1 Feb 1992

Elion J, Berg P E, Lapouméroulie C, Trabuchet G, Mittelman M, Krishnamoorthy R, Schechter A N, Labie D

Abstract excerpt

The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5' to the human beta-globin gene that acts as a silencer for the transcription of this gene and have shown that a polymorphism in this sequence is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetics, Population

Share to Haplotypes

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1346253

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.PMID 1346253Read ↗

A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F.Semantic proximity Read ↗

DNAase I hypersensitive site 3' to the beta-globin gene cluster contains a TAA insertion specific for beta(S)-Benin haplotype.Semantic proximity Read ↗

Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes.Semantic proximity Read ↗

Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis.Semantic proximity Read ↗

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.Semantic proximity Read ↗

α-Thalassemia resulting from a negative chromosomal position effectSemantic proximity Read ↗

Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism.Semantic proximity Read ↗

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the beta-globin gene in the Thai population.Semantic proximity Read ↗

Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F.Semantic proximity Read ↗

A naturally occurring gamma globin gene mutation enhances SP1 binding activity.Semantic proximity Read ↗

Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.