[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. 2010 Jun;18(3):675-8.
[Article in 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.

Publication types

  • English Abstract

MeSH terms

  • 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*

Substances

  • Hemoglobins, Abnormal