Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS.
- Author:
Jian CHEN
1
;
Bi LUO
;
Zhu QI
;
Pei-Dan HUO
;
Quan-Sheng ZHANG
;
Hong WANG
Author Information
1. Department of Biochemistry, Basic Medical College, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan Province, China. chenjian733@sina.com
- Publication Type:Journal Article
- MeSH:
Adult;
Child;
Child, Preschool;
Female;
Genotype;
Hemoglobins, Abnormal;
genetics;
Humans;
Pedigree;
Point Mutation;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Sequence Deletion;
Young Adult;
alpha-Thalassemia;
genetics
- From:
Journal of Experimental Hematology
2010;18(3):675-678
- CountryChina
- Language:Chinese
-
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.
