Document Detail


Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies.
MedLine Citation:
PMID:  18652889     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The purpose of the present work was to characterize g.IVS5-69C>T, g.IVS6+13C>T and c.561C>T SNPs and the [CT](n) microsatellite in the TSHR gene for genetic analysis. Exons 6 and 7 of the TSHR gene, including the flanking intronic sequences, were screened for the presence of g.IVS5-69C>T, g.IVS6+13C>T and c.561C>T SNPs by SSCP. We found genetic association between the three SNPs and a total of three different haplotypes were observed. Two were homozygous blocks, g.IVS5-69T/g.IVS6+13G/c.561C (Haplotype TGC, 3.3%) and g.IVS5-69C/g.IVS6+13A/c.561T (Haplotype CAT, 75%). Every individual who was heterozygous for g.IVS5-69C>T was equally heterozygous for g.IVS6+13A>G and c.561T>C (Haplotype CAT/TGC, 21.7%). The [CT](n) microsatellite, localized in intron 7 of the TSHR gene was amplified by PCR and the labeled products were separated in a polyacrylamide denaturing sequencing gel. Three variable numbers of CT motif were identified, two previously reported ([CT](6) and [CT](8)) and one previously unreported ([CT](9)). The construction and expression of the hybrid minigenes using pSPL3 and alpha-globin-fibronectin EDB (pTB) vectors showed that the [CT](n) microsatellite itself does not interfere with exon 8 definition and processing in vitro. In conclusion, g.IVS5-69C>T/g.IVS6+13C>T/c.561C>T haplotypes and [CT](n) microsatellite are informative polymorphic markers and can be used in linkage studies in families with germ line TSHR mutations or autoimmunity thyroid diseases.
Authors:
Sebastián A Esperante; Carina M Rivolta; Mariela Caputo; Rogelio González-Sarmiento; Héctor M Targovnik
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-07-04
Journal Detail:
Title:  Molecular and cellular probes     Volume:  22     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:    2008 Oct-Dec
Date Detail:
Created Date:  2008-11-28     Completed Date:  2009-03-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  England    
Other Details:
Languages:  eng     Pagination:  281-6     Citation Subset:  IM    
Affiliation:
Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Exons
Haplotypes
Humans
Microsatellite Repeats*
Molecular Sequence Data
Polymorphism, Single Nucleotide*
Receptors, Thyrotropin / genetics*
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Receptors, Thyrotropin

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