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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Polymorphism, Restriction Fragment Length
/
Hemoglobins, Abnormal
/
Polymerase Chain Reaction
/
Sequence Deletion
/
Point Mutation
/
Alpha-Thalassemia
/
Genetics
/
Genotype
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
Language:
Chinese
Journal:
Journal of Experimental Hematology
Year:
2010
Type:
Article
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