PMID- 8981011
OWN - NLM
STAT- MEDLINE
DCOM- 19970320
LR  - 20051116
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 104 Suppl 4
DP  - 1996
TI  - Theoretical basis and application of molecular diagnostics.
PG  - 92-7
AB  - Molecular biology has brought much progress in understanding physiology and 
      pathophysiology as well as tumor development in thyroidology. The principles of 
      gene organisation, regulation, and expression will be mentioned in regard to the 
      thyroid and thyroid hormones. A growing number of thyroid disorders are linked to 
      molecular events like mutations, deletions, splice errors, gene duplications or 
      aberrant expression. The genetic causes and molecular approaches in diagnosis are 
      most evident in rare inheritable syndromes, such as familial medullary thyroid 
      carcinoma (FMTC, MEN 2), thyroid hormone resistance or non-autoimmune autosomal 
      dominant hyperthyroidism. Furthermore, in toxic nodules, papillary and sporadic 
      medullary thyroid carcinomas somatic mutations have been found, of which the 
      pathogenetic role is still under debate. The molecular tools to diagnose gene 
      mutations are mostly based on the polymerase chain reaction (PCR). Screening 
      methods include single-strand conformation polymorphism (SSCP), denaturing 
      gradient gel electrophoresis (DGGE), and temperature gradient gel electrophoresis 
      (TGGE). More specific methods like enzyme restrictions or allele-specific PCR 
      require precise knowledge of the mutation which is searched for in genomic DNA. 
      DNA sequencing is the safest but not the cheapest or simplest way to detect a 
      mutation. Some examples will be given for the application of the above mentioned 
      methods in diagnosing certain thyroid diseases.
FAU - Finke, R
AU  - Finke R
AD  - Abteilung Innere Medizin mit Schwerpunkt Endokrinologie, Universitatsklinikum 
      Benjamin Franklin der Freien Universitat, Berlin, Germany.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
SB  - IM
MH  - Gene Expression Regulation
MH  - Genetic Techniques
MH  - Genome, Human
MH  - Humans
MH  - Mutation
MH  - Sequence Analysis, DNA
MH  - Thyroid Diseases/*diagnosis/*genetics
RF  - 17
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
AID - 10.1055/s-0029-1211711 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:92-7. doi: 10.1055/s-0029-1211711.