L. Thiberville et al., DETECTION BY THE POLYMERASE CHAIN-REACTION OF 2 POLYMORPHISMS IN EXON-14 OF THE HUMAN INTER-ALPHA-TRYPSIN INHIBITOR HEAVY-CHAIN H1 GENE, Human genetics, 93(1), 1994, pp. 91-92
Two polymorphisms were detected within exon 14 of the inter-alpha-tryp
sin inhibitor heavy chain H1 (ITIH1) gene. The polymorphisms are detec
ted 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 polymorph
isms can be used for the analysis of 3p21 deletion in human carcinomas
as well as to develop a better understanding of the protein polymorph
ism already described.