Detection of T to G mutation at position 59 in the Lewis gene by mismatch polymerase chain reaction

Int J Legal Med. 1995;107(6):280-2. doi: 10.1007/BF01246873.

Abstract

Recently, we discovered the missense mutations of T to G at position 59 and of G to A at position 508 in one of the Lewis-negative (le) genes (Koda et al. 1993). In the present study, we report a method to detect the mutation at position 59 using mismatch PCR amplification and endonuclease MspI digestion. For this mutation, we found that 7 out of 12 Lewis-negative, and none of 15 Lewis-positive individuals were homozygous, while 4 out of 12 Lewis-negative, and 4 out of 15 Lewis-positive individuals were heterozygous. These results indicate that the mutation at position 59 is a common mutation in the le genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics*
  • Fucosyltransferases / genetics
  • Genetic Carrier Screening
  • Genome
  • Homozygote
  • Humans
  • Lewis Blood Group Antigens / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Polymerase Chain Reaction / methods*
  • Restriction Mapping

Substances

  • Lewis Blood Group Antigens
  • DNA
  • Fucosyltransferases
  • 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase