Literature DB >> 1605197

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.

G J Riggins1, S L Sherman, B A Oostra, J S Sutcliffe, D Feitell, D L Nelson, B A van Oost, A P Smits, F J Ramos, E Pfendner.   

Abstract

Fragile X [fra (X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra (X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra (X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

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Year:  1992        PMID： 1605197     DOI： 10.1002/ajmg.1320430138

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  20 in total

1.  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

2.  PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Authors:  S Lindsay; M Splitt; S Edney; T P Berney; S J Knight; K E Davies; O O'Brien; M Gale; J Burn
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.

Authors:  J C Dreesen; J P Geraedts; J C Dumoulin; J L Evers; M H Pieters
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

4.  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

5.  Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

Authors:  L Strain; C M Gosden; D J Brock; D T Bonthron
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

6.  Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Authors:  B A Oostra; P B Jacky; W T Brown; F Rousseau
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

7.  Founder effect in a Belgian-Dutch fragile X population.

Authors:  S Buyle; E Reyniers; L Vits; K De Boulle; I Handig; F L Wuyts; W Deelen; D J Halley; B A Oostra; P J Willems
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

8.  Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

Authors:  C Oudet; E Mornet; J L Serre; F Thomas; S Lentes-Zengerling; C Kretz; C Deluchat; I Tejada; J Boué; A Boué
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

9.  Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Authors:  E Mornet; A Bogyo; C Deluchat; B Simon-Bouy; M Mathieu; F Thépot; M C Grisard; E Leguern; J Boué; A Boué
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

10.  Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.

Authors:  E Mornet; C Chateau; A Taillandier; B Simon-Bouy; J L Serre
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132
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