The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II |
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Authors: | Eva-Maria Westphal Ernst Natt Tiemo Grimm Michel Odievre Gerd Scherer |
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Institution: | (1) Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, D-7800 Freiburg i. Br., Germany;(2) Institut für Humangenetik der Universität, Koellikerstrasse 2, D-8700 Wurzburg, Germany;(3) Service de Pediatrie, Hopital A. Béclère, 157, rue de la Porte de Trivaux, F-92141 Clamart, France |
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Abstract: | Summary Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5 to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis of the cloned maternal and paternal TAT alleles from patient with tyrosinemia type II led to the identification of a HaeIII RFLP at the 3 end of the TAT gene, with allele frequencies of 0.94 and 0.06. The two RFLPs are 27 kb apart and in no allelic association. From haplotype frequencies, a polymorphism information content (PIC) value of 0.44 was obtained. The two RFLPs have allowed the unambiguous identification of the mutant TAT alleles in the patient's pedigree by haplotype analysis. |
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