PMID: 7518408Jul 1, 1994Paper

The polymorphism of the plasma inter-alpha-trypsin inhibitor (ITI) and its relationship to the heavy chain H1 subunit gene (ITIH1) at 3p211-212

Human Genetics
U VogtH Cleve

Abstract

We investigated the ITI protein polymorphism in linkage analysis, using DraI and SstI as restriction fragment length polymorphism (RFLP) markers for the ITIH1 gene. Isoelectric focusing (IEF) classification from 76 individual plasma samples and RFLP analysis from the corresponding DNA preparations disclosed linkage disequilibrium between the phenotypic IEF patterns of the two common ITI alleles, ITI*1 and ITI*2, and the diallelic DNA polymorphisms of two ITIH1 RFLPs, represented by DraI 4.0 kb and DraI 2.4 + 1.6 kb, and by SstI 6.7 kb and SstI 6.0 + 0.7 kb, for the ITI 1 and ITI 2 IEF phenotypes, respectively, and by DraI 4.0/2.4 + 1.6 kb and SstI 6.7/6.0 + 0.7 kb for the heterozygous ITI 1-2 IEF phenotype. Linked segregation between either of the RFLPs and the polymorphic ITI plasma protein locus has been established in nine informative family pedigrees. The less frequent allele in Europeans, ITI*3, is not represented by a further allelic restriction fragment in either RFLP. The significant linkage disequilibrium observed in this genetic study indicates that the ITI locus, with the alleles ITI*1 and ITI*2, must be close to, or reside within, the ITIH1 gene. The diallelic ITI protein polymorphism therefore provides an informati...Continue Reading

References

Aug 17, 1992·Biochimica Et Biophysica Acta·M Diarra-MehrpourJ P Martin
May 1, 1992·Electrophoresis·U VogtH Cleve
Jan 1, 1991·International Journal of Legal Medicine·U VogtH Cleve
Mar 25, 1988·Nucleic Acids Research·T LéveillardJ P Martin
Dec 23, 1988·Nucleic Acids Research·T LéveillardJ P Martin
Jan 15, 1989·European Journal of Biochemistry·M Diarra-MehrpourJ P Martin
Jul 11, 1989·Nucleic Acids Research·T LéveillardJ P Martin
Jul 11, 1989·Nucleic Acids Research·T LéveillardJ P Martin
Jul 1, 1983·Analytical Biochemistry·A P Feinberg, B Vogelstein
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott

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Citations

Jan 1, 1995·International Journal of Legal Medicine·A HaradaT Suzuki
Nov 11, 2008·Connective Tissue Research·Lisheng Zhuo, Koji Kimata
Jun 1, 1997·The Japanese Journal of Human Genetics·N NakayashikiY Aoki

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