Molecular basis of inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) polymorphism

Hum Genet. 1995 Apr;95(4):435-6. doi: 10.1007/BF00208970.

Abstract

A genetic polymorphism of the inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) was analyzed at the nucleic acid level. Three common alleles, ITIH1*1, ITIH1*2 and ITIH1*3, were characterized by mutations at codons 551 and 561 in exon 14. ITIH1*1 was characterized by GAG (Glu) at codon 551 and CAG (Gln) at codon 561, ITIH1*2, by GTG (Val) and CGG (Arg), and ITIH1*3, by GAG (Glu) and CGG (Arg).

MeSH terms

  • Alpha-Globulins / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • DNA / analysis
  • DNA Primers / chemistry
  • Humans
  • Molecular Biology
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Trypsin Inhibitors / genetics*

Substances

  • Alpha-Globulins
  • Codon
  • DNA Primers
  • Trypsin Inhibitors
  • inter-alpha-inhibitor
  • DNA