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Transthyretin gene V30M,H90N,and (del9) mutations in cardiomyopathy patients from St. Petersburg
Authors:K. V. Solovyov  N. A. Grudinina  E. N. Semernin  I. V. Morozova  S. A. Smirnova  D. S. Polyakov  T. D. Aleynikova  E. V. Shliakhto  A. Ya. Gudkova  M. M. Shavlovsky
Affiliation:1.Department of Molecular Genetics, Research Institute of Experimental Medicine, Northwestern Division,Russian Academy of Medical Sciences,St. Petersburg,Russia;2.Institute of Cardiovascular Diseases,Pavlov State Medical University,St. Petersburg,Russia;3.Almazov Federal Center of Heart and Blood,Federal Agency of High Technology Medical Assistance,St. Petersburg,Russia
Abstract:
A search of transthyretin (TTR) gene mutations was performed in patients with cardiomyopathies from St. Petersburg. Mutations H90N, V30M and deletion (del9) of nucleotides GACTTCTCC in position 6776 from the start codon of the TTR gene (in position 98782 according to reference sequence AC079096 (NCBI) was found. The H90N mutation in the third exon of TTR gene was detected in a son of a cardiomyopathy patient and in his mother, which lacked any clinical manifestations. Mutation V30M in exon 2 of TTR gene was found in heterozygous in one of the probands. Deletion (del9) was revealed in a patient with cardiomyopathy and in his two daughters from different marriages, who had no clinical manifestations of the disease. All the mutations revealed in this study were previously identified in other populations.
Keywords:
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