title: [Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS].
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.
authors.affiliation: Department of Biochemistry, Basic Medical College, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan Province, China. chenjian733@sina.com
authors.forename: Jian
authors.initials: J
authors.lastname: Chen
authors.forename: Bi
authors.initials: B
authors.lastname: Luo
authors.forename: Zhu
authors.initials: Z
authors.lastname: Qi
authors.forename: Pei-Dan
authors.initials: PD
authors.lastname: Huo
authors.forename: Quan-Sheng
authors.initials: QS
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D055815:Young Adult; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal