[Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 18(3): 675-8, 2010 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-20561426
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Deleção de Sequência
/
Talassemia alfa
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
China