Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 675-678, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-243288
ABSTRACT
This study was aimed to establish a method of PCR combination with PCR-RFLP for detecting the South-East Asian (SEA) deletion type alpha-thalassemia 1 and non-deletion mutation of Hb Constant Spring (CS), and to investigate the application value of this method. For the members of the families with alpha-thalassemia, SEA deletion mutation was detected by PCR, then the HbCS point mutation was screened by PCR-RFLP. The results indicated that 15 carriers with alpha-thalassemia (--(SEA)/) were found in 19 members from 7 families, and 2 families with genotype of --(SEA)/alpha(CS)alpha were screened out successfully. It is concluded that the PCR combination with PCR-RFLP is a simple, rapid, and reliable method for screening HbH disease with genotype of --(SEA)/alpha(CS)alpha.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Polimorfismo de Fragmento de Restrição
/
Hemoglobinas Anormais
/
Reação em Cadeia da Polimerase
/
Deleção de Sequência
/
Mutação Puntual
/
Talassemia alfa
/
Genética
/
Genótipo
Limite:
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2010
Tipo de documento:
Artigo
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