Detection of a restriction site polymorphism within the human ?-globin gene complex

1985 ◽  
Vol 69 (2) ◽  
pp. 144-146 ◽  
Author(s):  
G. Assum ◽  
E. -U. Griese ◽  
J. Horst
Keyword(s):  
Restriction Site ◽  
Globin Gene ◽  
Gene Complex ◽  
Restriction Site Polymorphism

Structural basis for restriction-site polymorphism at the albumin locus in inbred strains of rats

1985 ◽  
Vol 23 (3-4) ◽  
pp. 257-266 ◽  
Author(s):  
Andras Gal ◽  
Jean-Louis Nahon ◽  
Gerard Lucotte ◽  
Tamas Erdos ◽  
Jos� M. Sala-Trepat
Keyword(s):  
Restriction Site ◽  
Inbred Strains ◽  
Structural Basis ◽  
Restriction Site Polymorphism

scholarly journals The detection and use of hemoglobin mutants in the direct analysis of human globin genes

Blood ◽  
1980 ◽  
Vol 55 (6) ◽  
pp. 1060-1062 ◽  
Author(s):  
PF Little ◽  
E Whitelaw ◽  
G Annison ◽  
R Williamson ◽  
JM Kooter ◽  
...  
Keyword(s):  
Restriction Site ◽  
Globin Gene ◽  
Direct Analysis ◽  
Globin Genes ◽  
Beta Globin ◽  
Gene Sequences ◽  
Gamma Globin ◽  
Alpha Globin ◽  
Specific Restriction ◽  
Alpha Beta

Abstract Many human globin-chain mutants contain amino acid replacements that result from single base changes in the corresponding globin gene. Using recombinants, the coding sequences of each of the alpha-, beta-, Ggamma- , and Agamma-globin genes have now been determined. Those sequences of DNA that are cleaved by a number of specific restriction endonucleases have been identified and accurately positioned. Mutations at these sequences abolish the restriction site, and therefore, the pattern of DNA fragments containing hybridizing globin-gene sequences is altered compared to DNA from normal persons. This allows the identification of one of a pair of cross-hybridizing human globin-gene sequences, as is shown here for the two alpha-globin, the two gamma-globin, and the delta- and beta-globin genes.

scholarly journals RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

2002 ◽  
Vol 17 (4) ◽  
pp. 475 ◽  
Author(s):  
Young Joon Lee ◽  
Sung Sup Park ◽  
Ji Yeon Kim ◽  
Han Ik Cho
Keyword(s):  
Globin Gene ◽  
Gene Complex ◽  
Beta Globin ◽  
Beta Globin Gene

scholarly journals An approximately 300 bp deletion involving part of the 5' beta-globin gene region is observed in members of a Turkish family with beta- thalassemia

Blood ◽  
1987 ◽  
Vol 70 (2) ◽  
pp. 583-586 ◽  
Author(s):  
JC Diaz-Chico ◽  
KG Yang ◽  
A Kutlar ◽  
AL Reese ◽  
M Aksoy ◽  
...  
Keyword(s):  
Promoter Region ◽  
Genomic Dna ◽  
Restriction Site ◽  
Globin Gene ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Promoter Sequences ◽  
Beta Globin Gene ◽  
Turkish Family ◽  
Thalassemia Trait

Abstract Detailed gene mapping analyses of genomic DNA from two Turkish subjects with a beta-thalassemia trait demonstrated an approximately 300 bp deletion, which is located between the Rsa I restriction site 128 bp 5′ to the Cap site and the Acc I restriction site 284 bp 3′ to the same Cap site; it includes the 5′ beta promoter region, the first exon, and (part of) the IVS-I. Heterozygotes for this and two other beta- thalassemia types, which are also caused by deletions involving 5′ beta promoter sequences, appear to have higher hemoglobin (Hb) A2 levels, perhaps because the loss of this promoter results in an increased transcription of the delta globin gene, as delta and beta promoters may be influenced by the same enhancing sequences 3′ to the beta globin gene.

Subdomains of the Baboon (P. anubis) β-Globin Gene Cluster Are Differentially Sensitive to Dacogen Treatment.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 525-525
Author(s):  
Janet Chin ◽  
Donald Lavelle ◽  
Bryan Roxas ◽  
Kestis Vaitkus ◽  
Maria Hankewych ◽  
...  
Keyword(s):  
Gene Expression ◽  
Histone Acetylation ◽  
Intergenic Region ◽  
Globin Gene ◽  
Globin Genes ◽  
Gene Complex ◽  
Alu Sequence ◽  
Low Levels ◽  
Globin Promoter ◽  
Globin Gene Expression

Abstract Understanding the mechanism responsible for the developmental regulation of the β-like globin genes would be important in the design of future pharmacologic therapies to increase fetal hemoglobin (HbF) in patients with sickle cell disease and β-thalassemia. The baboon is a valuable and relevant experimental animal model to study the regulation of globin gene expression because the structure of the β-globin gene complex and developmental pattern of globin gene expression are similar to human, and HbF levels are greatly increased following treatment of baboons with the DNA methyltransferase inhibitor Dacogen (5-aza-2′-deoxycytidine; DAC). To investigate the relationship between DNA methylation, chromatin structure and globin gene expression, the pattern of acetylated histone H3 (ac-H3) and H4 (ac-H4) within the β-globin gene complex was compared in purified erythroblasts from baboon fetal liver (FL; n=2) and bone marrow (ABM; n=2) of adult baboons pre and post DAC treatment. HbF increased to high levels (67.8%, 61.9%) in respective animals and methylation of 18 CpG sites within the ε- and γ globin genes was reduced >50% following DAC treatment. Enrichment of ac-H3 and ac-H4 throughout the β-globin gene complex was measured by chromatin immunoprecipitation (ChIP) followed by real time PCR. In FL, equivalent levels of ac-H3 and ac-H4 were observed near the ε-globin and γ-globin promoters that were 3 fold higher than near the Aγ-enhancer and pseudo-β gene and 5–14 fold higher than near the β-globin promoter. In pretreatment ABM, levels of ac-H3 and ac-H4 near the β-globin promoter were 4–6 fold greater than near the γ-globin promoter, Aγ-enhancer, and pseudo-β gene and 10-15 fold higher than near the ε-globin promoter. The lowest levels of histone acetylation were observed in a 6kb subdomain within the γ-β intergenic region extending from the duplicated Alu sequence to 3′ of the δ-globin gene. Following DAC treatment, histone acetylation of the ε-, γ-, and pseudo-β genes and Aγ-enhancer increased 4-10 fold, while histone acetylation of the β-globin gene remained unchanged. This resulted in equivalent levels of histone acetylation associated with the γ-globin gene, Aγ-enhancer, pseudo-β-, and β-globin genes that were 3 fold greater than with the ε-globin gene. The levels of histone acetylation within the 6 kb subdomain of the γ-β intergenic region remained low. Our results suggest that three subdomains of chromatin are present within the baboon β-globin gene complex. One subdomain that encompasses the ε-, γ-, and pseudo-β genes is characterized by high levels of histone acetylation in FL and low levels in ABM. DAC treatment increases histone acetylation within this region to levels observed near the β-globin gene. A second subdomain near the β-globin gene is characterized by high levels of histone acetylation in ABM and low levels in FL. Histone acetylation of the β-globin gene within this subdomain remains high following DAC. A third subdomain found within the γ-β intergenic region surrounding the duplicated Alu sequences is characterized by a low level of histone acetylation in both FL and ABM. The level of histone acetylation of this region remains low following DAC. We conclude that three chromatin subdomains within the β-globin gene complex are differentially sensitive to DAC-induced changes in histone acetylation.

scholarly journals Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex

1980 ◽  
Vol 8 (21) ◽  
pp. 4889-4898 ◽  
Author(s):  
Lynne Pressley ◽  
D.R. Higgs ◽  
B. Aldridge ◽  
A. Metaxatou-Mavromati ◽  
J.B. Clegg ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Complex ◽  
Partial Deletion

Characterization of two deletions that remove the entire human ζ-α globin gene complex (—THAIand —FIL)

1988 ◽  
Vol 70 (2) ◽  
pp. 233-238 ◽  
Author(s):  
N. Fischel-Ghodsian ◽  
M. A. Vickers ◽  
M. Seip ◽  
P. Winichagoon ◽  
D. R. Higgs
Keyword(s):  
Globin Gene ◽  
Gene Complex

scholarly journals Restriction Site Polymorphism in the Ribosomal DNA of Eight Species of Canidae and Mustelidae.

CYTOLOGIA ◽  
1993 ◽  
Vol 58 (2) ◽  
pp. 223-230 ◽  
Author(s):  
Tetsuji Hosoda ◽  
Hitoshi Suzuki ◽  
Takuzo Yamada ◽  
Kimiyuki Tsuchiya
Keyword(s):  
Ribosomal Dna ◽  
Restriction Site ◽  
Restriction Site Polymorphism
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