Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 498-501, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-328839
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship of beta-thalassemia mutations and the single nucleotide polymorphism(SNP) at position -158 of (G)Gamma-globin gene to the altered levels of fetal hemoglobin(Hb F) of beta-thalassemia heterozygotes.</p><p><b>METHODS</b>Hb F was quantitated by alkali denaturation; beta-thalassemia mutations were determined by PCR-allelic specific oligonucleotide(PCR-ASO). The SNP at -158 was analyzed by amplification of (G)Gamma gene promoter fragments from the DNA, followed by Xmn I restriction enzyme digestion.</p><p><b>RESULTS</b>Among 63 cases with beta-thalassemia trait, 15 had Hb F levels above 2% (2.06%-10.44%). Six beta-thalassemia mutations were observed in this study, namely CD41/42(-TTCT), CD17(A-->T), nt28 (A-->G), CD71/72(+A), IVS-II-654(C-->T) and IVS-I-1(G-->T). There was no difference in the incidence of beta-thalassemia heterozygotes of CD41/42, CD17, CD71/72 and IVS-II-654 between 15 cases with Hb F>/=2% and 48 cases with Hb F<2%. Ten (15.9%) heterozygotes of (G)Gamma-158(C-->T)were detected among 63 cases, and 8 of them (53.33%) belonged to the group of Hb F>/=2% while the remaining 2 cases (4.17%) were in the group of Hb F<2%.</p><p><b>CONCLUSION</b>beta-thalassemia mutations of CD41/42, CD17, CD71/72, IVS-II-654 had no influence on Hb F levels, but (G)Gamma-158(C-->T) had a strong association with moderately increased Hb F levels in beta-thalassemia heterozygotes in the Guangxi area of China.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hemoglobina Fetal
/
Reação em Cadeia da Polimerase
/
Talassemia beta
/
Polimorfismo de Nucleotídeo Único
/
Gama-Globinas
/
Genética
/
Heterozigoto
/
Mutação
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo
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