scholarly journals AN INITIATION CODON MUTATION IN THE α1 GLOBIN GENE OF A BLACK FAMILY WITH HbH DISEASE

1987 ◽  
Vol 21 (4) ◽  
pp. 303A-303A
Author(s):  
Nancy F Olivieri ◽  
Annette O Poon ◽  
Lebe S Chang ◽  
Alan M Michelson ◽  
Stuart H Orkin
Keyword(s):  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Codon Mutation ◽  
Hbh Disease

scholarly journals An alpha-globin gene initiation codon mutation in a black family with HbH disease

Blood ◽  
1987 ◽  
Vol 70 (3) ◽  
pp. 729-732 ◽  
Author(s):  
NF Olivieri ◽  
LS Chang ◽  
AO Poon ◽  
AM Michelson ◽  
SH Orkin
Keyword(s):  
Molecular Basis ◽  
Restriction Site ◽  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Cloning And Sequencing ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Codon Mutation ◽  
Thalassemia Mutation

Abstract The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A---- G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.

scholarly journals An alpha-globin gene initiation codon mutation in a black family with HbH disease

Blood ◽  
1987 ◽  
Vol 70 (3) ◽  
pp. 729-732
Author(s):  
NF Olivieri ◽  
LS Chang ◽  
AO Poon ◽  
AM Michelson ◽  
SH Orkin
Keyword(s):  
Molecular Basis ◽  
Restriction Site ◽  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Cloning And Sequencing ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Codon Mutation ◽  
Thalassemia Mutation

The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A---- G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.

An alpha-2 Globin Gene Initiation Codon Mutation in a Vietnamese Patient with Hb H Disease

1998 ◽  
Vol 850 (1 COOLEY'S ANEM) ◽  
pp. 398-400
Author(s):  
F. KUTLAR ◽  
T. V. ADAMKIEWICZ ◽  
R. B. MARKOWITZ ◽  
L. HOLLEY ◽  
A. KUTLAR
Keyword(s):  
Globin Gene ◽  
Initiation Codon ◽  
Hb H Disease ◽  
Codon Mutation

De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a swiss family

1993 ◽  
Vol 42 (3) ◽  
pp. 248-253 ◽  
Author(s):  
P. Beris ◽  
R. Darbellay ◽  
D. Speiser ◽  
V. Kirchner ◽  
P. A. Miescher
Keyword(s):  
De Novo ◽  
Globin Gene ◽  
Initiation Codon ◽  
Codon Mutation

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C)

Hemoglobin ◽  
2019 ◽  
Vol 43 (4-5) ◽  
pp. 241-244 ◽  
Author(s):  
Ya-Li Lei ◽  
Hong Sui ◽  
Yu-Juan Liu ◽  
Jun-Jun Pan ◽  
Yan-Hui Liu ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Translation Initiation Codon ◽  
Codon Mutation

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)

Hemoglobin ◽  
2016 ◽  
Vol 40 (5) ◽  
pp. 369-370 ◽  
Author(s):  
John S. Waye ◽  
Barry Eng ◽  
Meredith Hanna ◽  
Betty-Ann Hohenadel ◽  
Lisa Nakamura ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Novel Mutation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Translation Initiation Codon

scholarly journals Partial deletion of the 5' beta-globin gene region causes beta zero- thalassemia in members of an American black family

Blood ◽  
1984 ◽  
Vol 64 (4) ◽  
pp. 941-944 ◽  
Author(s):  
BJ Padanilam ◽  
AE Felice ◽  
TH Huisman
Keyword(s):  
Black Family ◽  
Globin Gene ◽  
Splice Junction ◽  
Beta Globin ◽  
Partial Deletion ◽  
Beta Globin Gene ◽  
American Patient ◽  
Thalassemia Trait ◽  
American Black ◽  
Endonuclease Mapping

Abstract Restriction endonuclease mapping defined a partial deletion of about 1.35 kb in the beta-globin gene of a black American patient with hemoglobin S-beta zero-thalassemia and in his uncle with a beta zero- thalassemia trait. The 5′ endpoint of the deletion is about 600 bases upstream from the cap site, and the 3′ endpoint lies within about 500 bases from the 5 splice junction of the second intervening sequence. The deletion is different from that of a previously reported Indian beta zero-thalassemia allele, where 0.6 kb is deleted at the 3′ end of the beta-globin gene.

A Rare Association of α0-Thalassemia (– –SEA) and an Initiation Codon Mutation (ATG→A-G) of the α2 Gene Causes Hb H Disease in Thailand

Hemoglobin ◽  
2005 ◽  
Vol 29 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Vip Viprakasit ◽  
Worrawut Chinchang ◽  
Waraporn Glomglao ◽  
Voravarn S Tanphaichitr
Keyword(s):  
Initiation Codon ◽  
Rare Association ◽  
Hb H Disease ◽  
Codon Mutation
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