ISSN:
0263-6484
Schlagwort(e):
Troponin T
;
myotonic dystrophy
;
polymerase chain reaction
;
cDNA sequencing
;
Chemistry
;
Biochemistry and Biotechnology
Quelle:
Wiley InterScience Backfile Collection 1832-2000
Thema:
Biologie
,
Medizin
Notizen:
Recent studies have shown that the gene encoding for the slow skeletal troponin isoform T (TNNT1) is located on the proximal long arm of human chromosome 19 in the myotonic dystrophy (DM) region. In order to test TNNT1 as a candidate gene for DM, we have isolated TNNT1 cDNA from skeletal muscle from two healthy individuals and from two patients with DM. Sequencing of the TNNT1 cDNA from the DM and normal muscle revealed two sequence variants but no transcriptionally significant mutations. This work rules out a defect in the coding segment of TNNT1 as a cause of DM and provides a polymerase chain reaction protocol for studying troponin T gene expression.
Zusätzliches Material:
2 Ill.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1002/cbf.290100407
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