A novel Sac I RFLP in the 3' untranslated region of the myotonin protein kinase gene

J Hum Genet. 1999;44(2):135-7. doi: 10.1007/s100380050128.

Abstract

We found a novel Sac I polymorphism downstream of CTG repeats in the 3' untranslated region of the myotonin protein kinase (MT-PK) gene. A C to G transition at nucleotide 13,590 in the gene was revealed by Southern blotting and confirmed by sequencing analyses. The allelic frequency of the C:G polymorphism in 63 unrelated Japanese individuals was estimated to be 0.98:0.02. When Southern blotting is employed in the analysis of the CTG repeat length in the MT-PK gene, this Sac I polymorphism should be taken into consideration.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions*
  • Base Sequence
  • DNA
  • Deoxyribonucleases, Type II Site-Specific / metabolism*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Myotonic Dystrophy / genetics
  • Myotonin-Protein Kinase
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Protein Kinases / genetics*
  • Protein Serine-Threonine Kinases*
  • Restriction Mapping
  • Trinucleotide Repeats

Substances

  • 3' Untranslated Regions
  • DMPK protein, human
  • DNA
  • Protein Kinases
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases
  • endodeoxyribonuclease SacI
  • Deoxyribonucleases, Type II Site-Specific