Analysis of copy number variations in alpha-globin gene in the cases with combined increased levels of HbF with β thalassemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 515-519, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-288040
ABSTRACT
<p><b>OBJECTIVE</b>To detect copy number changes of α-globin gene, and analyze molecular mechanism of the impacts of fetal hemoglobin (HbF) levels for α-globin gene copy numbers loss or increase.</p><p><b>METHODS</b>A total of 15 cases with combined increased levels of fetal hemoglobin with β-thalassemia were collected. Firstly, three common α-thalassemia deletions were validated by Gap-PCR. Secondly, the largest deletions of the β-globin gene cluster were detected by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Among the 15 cases, there was 1 case with duplication of the α-globin gene cluster, 3 cases of SEA heterozygote deletion of the α-globin gene, 1 cases of α 3.7 deletion heterozygote of the α-globin gene, 1 case of alpha 4.2 deletion homozygote of the α-globin gene, 1 case of deletion homozygote in the like α-globin gene. A compound heterozygous for SEA and α 3.7 of the α-globin gene was also detected. However, 7 cases showed no copy numbers loss and increase of the the α-globin gene cluster.</p><p><b>CONCLUSION</b>Additional α-globin gene can produce excessive α-chain, which can aggravate imbalance for α and β-chain, and cause clinical symptoms in patients with β-thalassemia. Yet, copy number loss or mutation in α-globin gene will cause a milder clinical phenotype.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Hemoglobina Fetal
/
China
/
Talassemia beta
/
Povo Asiático
/
Alfa-Globinas
/
Variações do Número de Cópias de DNA
/
Genética
/
Metabolismo
/
Mutação
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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