Detection of beta-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique

Hum Genet. 1989 Jul;82(4):389-90. doi: 10.1007/BF00274004.

Abstract

Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electrophoresis and ethidium bromide staining. Whereas the nonsense mutations at codon 17 (AAG----TAG) and Hb E (GAG----AAG at codon 26) were detected after digestion of the amplified DNA with the enzymes MaeI and MnlI, respectively.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Codon
  • DNA / genetics*
  • DNA Restriction Enzymes
  • Electrophoresis, Polyacrylamide Gel
  • Gene Amplification*
  • Globins / genetics*
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Mutation
  • Oligonucleotide Probes
  • Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • Oligonucleotide Probes
  • Globins
  • DNA
  • Hemoglobin E
  • DNA Restriction Enzymes