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Heart disease among some Japanese may be due to sequencing variation inside a gene

no nucleotide variations that result in amino acid substitution, and were unlikely to affect splicing. The research team considered that the diseases could be caused without any changes in the primary structure among the patients. In fact, the team was able to identify 13 novel nucleotide variations in the coding region and one in the exon-intron boundaries in a comparison to the National Center for Biotechnology Information (NCBI) sequence database.

Conclusions
This study strongly demonstrates that it is important to characterize sequence variations of any disease genes, since there are ethnic differences in sequence variations among genes. Utilizing this approach can lead to better understanding of ethnic differences in the genetic pathogenesis of human disease.


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Contact: Donna J. Krupa
djkrupa1@aol.com
American Physiological Society
9-Apr-2003


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