Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-alpha-trypsin inhibitor heavy chain H1 gene

Hum Genet. 1994 Jan;93(1):91-2. doi: 10.1007/BF00218925.

Abstract

Two polymorphisms were detected within exon 14 of the inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) gene. The polymorphisms are detected by digesting the same 202-bp polymerase reaction product with the PstI and Hph1 restriction endonucleases. These gene polymorphisms lead to the change of two amino acids in the mature protein. The polymorphisms can be used for the analysis of 3p21 deletion in human carcinomas as well as to develop a better understanding of the protein polymorphism already described.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alpha-Globulins / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 3
  • DNA Restriction Enzymes
  • Exons / genetics*
  • Humans
  • Molecular Sequence Data
  • Oligonucleotides
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic / genetics*
  • Trypsin Inhibitors / genetics*

Substances

  • Alpha-Globulins
  • Oligonucleotides
  • Trypsin Inhibitors
  • inter-alpha-inhibitor
  • DNA Restriction Enzymes

Associated data

  • GENBANK/X69541