Literature DB >> 8275089

A complex mutable polymorphism located within the fragile X gene.

N Zhong1, C Dobkin, W T Brown.   

Abstract

While studying founder chromosomes in the fragile X syndrome, we have unexpectedly found linkage equilibrium to FRAXAC2, an Alu-associated microsatellite within the defective gene, FMR-1. DNA sequencing of 265 chromosomes revealed 39 alleles and a complex microsatellite of form (GT)x-C-(TA)y-(T)z. A mutation rate of 3.3% was observed but only among fragile X maternally derived meioses. Finding a second mutable locus within FMR-1 suggests that the target for tandem repeat instability may not be confined to the (CGG)n repeat alone and raises the possibility of an FMR-1 mutation mechanism involving microsatellites.

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Year:  1993        PMID： 8275089     DOI： 10.1038/ng1193-248

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  10 in total

1.  Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

Authors:  D C Crawford; C E Schwartz; K L Meadows; J L Newman; L F Taft; C Gunter; W T Brown; N J Carpenter; P N Howard-Peebles; K G Monaghan; S L Nolin; A L Reiss; G L Feldman; E M Rohlfs; S T Warren; S L Sherman
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

2.  FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Authors:  Deepti Sharma; Meena Gupta; B K Thelma
Journal:  Hum Genet       Date:  2002-12-14       Impact factor: 4.132

3.  Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

Authors:  M L Väisänen; R Haataja; J Leisti
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

4.  Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

Authors:  T C Falik-Zaccai; E Shachak; M Yalon; Z Lis; Z Borochowitz; J N Macpherson; D L Nelson; E E Eichler
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

5.  Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

Authors:  G Stevanin; G Cancel; O Didierjean; A Dürr; N Abbas; E Cassa; J Feingold; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

6.  Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

Authors:  J N Macpherson; G Curtis; J A Crolla; N Dennis; B Migeon; P K Grewal; M C Hirst; K E Davies; P A Jacobs
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

7.  Fragile X premutations are not a major cause of early menopause.

Authors:  A Kenneson; D W Cramer; S T Warren
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

8.  Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Authors:  M Losekoot; E Hoogendoorn; R Olmer; C C Jansen; J C Oosterwijk; A M van den Ouweland; D J Halley; S T Warren; R Willemsen; B A Oostra; E Bakker
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

9.  Fragile X gene instability: anchoring AGGs and linked microsatellites.

Authors:  N Zhong; W Yang; C Dobkin; W T Brown
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

10.  AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Authors:  Carolyn M Yrigollen; Blythe Durbin-Johnson; Louise Gane; David L Nelson; Randi Hagerman; Paul J Hagerman; Flora Tassone
Journal:  Genet Med       Date:  2012-04-12       Impact factor: 8.822
  10 in total

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