Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1998-6-10
|
| pubmed:abstractText |
Fragile X syndrome is usually caused by expansion of a trinucleotide (CGG) repeat in the 5'-untranslated region of the FMR1 gene. However, both deletions and point mutations in FMR1 have been identified as rare causes of the fragile X syndrome. We have screened the FMR1 gene for mutations by single-stranded conformational polymorphism analysis in 118 mentally retarded males who were referred to us for fragile X testing, and who had a CGG repeat number in the normal size range. We found one patient with a 2-bp deletion in intron 1 and two unrelated patients with identical silent mutations in exon 1. Neither of these mutations were found in 83 controls. Further investigation of the exon 1 silent mutation by Western blot analysis showed normal expression of FMRP in lymphoblastoid cells and reverse-transcription-polymerase chain reaction analysis showed that intron 1 and 2 were spliced out as in the normal control. Furthermore, we found two common polymorphisms, one in intron 1 and one in exon 5. However, no pathogenic FMR1 mutation was found.
|
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/FMR1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Fragile X Mental Retardation Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
102
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
440-5
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9600241-Adolescent,
pubmed-meshheading:9600241-Adult,
pubmed-meshheading:9600241-Aged,
pubmed-meshheading:9600241-Aged, 80 and over,
pubmed-meshheading:9600241-Child,
pubmed-meshheading:9600241-Child, Preschool,
pubmed-meshheading:9600241-DNA Mutational Analysis,
pubmed-meshheading:9600241-Fragile X Mental Retardation Protein,
pubmed-meshheading:9600241-Fragile X Syndrome,
pubmed-meshheading:9600241-Humans,
pubmed-meshheading:9600241-Intellectual Disability,
pubmed-meshheading:9600241-Male,
pubmed-meshheading:9600241-Middle Aged,
pubmed-meshheading:9600241-Nerve Tissue Proteins,
pubmed-meshheading:9600241-Point Mutation,
pubmed-meshheading:9600241-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9600241-RNA-Binding Proteins,
pubmed-meshheading:9600241-Testis
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations.
|
| pubmed:affiliation |
Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark. kag@jfk.kennedy.dk
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|