Literature DB >> 2569270

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

N Dahl1, P Goonewardena, H Malmgren, K H Gustavson, G Holmgren, E Seemanova, G Annerén, A Flood, U Pettersson.   

Abstract

A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X chromosome. In the previous communication we describe a linkage study encompassing 16 fragile-X families and using U6.2 and five previously described polymorphic markers at Xq26-q28. One recombination event was observed between DXS304 and the fragile-X locus in 36 informative meioses. Combined with information from other reports, our results suggest the following order of the examined loci on Xq: cen-F9-DXS105-DXS98-FRAXA-DXS304-(DXS52-F8 -DXS15). The locus DXS304 is closely linked to FRAXA, giving a peak lod score of 5.86 at a corresponding recombination fraction of .00. On the basis of the present results, it is apparent that U6.2 is a useful probe for carrier and prenatal diagnosis in fragile-X families.

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Year:  1989        PMID： 2569270      PMCID： PMC1683358     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  25 in total

1.  Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-fra(X)-DXS15-DXS52-F8C-telomere.

Authors:  L M Mulligan; H J Grover; V S Blanchette; A R Giles; D P Lillicrap; A Phillips; J J Holden; B N White
Journal:  Am J Med Genet       Date:  1987-03

2.  Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis.

Authors:  U Tantravahi; V V Murty; S C Jhanwar; J J Toole; J M Woozney; R S Chaganti; S A Latt
Journal:  Cytogenet Cell Genet       Date:  1986

3.  Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors:  B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

4.  RFLP for linkage analysis of fragile X syndrome.

Authors:  W T Brown; Y Wu; A C Gross; C B Chan; C S Dobkin; E C Jenkins
Journal:  Lancet       Date:  1987-01-31       Impact factor: 79.321

5.  Preventive screening for the fragile X syndrome.

Authors:  G Turner; H Robinson; S Laing; S Purvis-Smith
Journal:  N Engl J Med       Date:  1986-09-04       Impact factor: 91.245

Review 6.  Molecular genetics of hemophilia A in man (factor VIII deficiency).

Authors:  S E Antonarakis; H Youssoufian; H H Kazazian
Journal:  Mol Biol Med       Date:  1987-04

7.  The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

Authors:  H Veenema; N J Carpenter; E Bakker; M H Hofker; A M Ward; P L Pearson
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

8.  Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

Authors:  I Oberlé; G Camerino; K Wrogemann; B Arveiler; A Hanauer; E Raimondi; J L Mandel
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

Authors:  K H Gustavson; H K Blomquist; G Holmgren
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

10.  Population incidence and segregation ratios in the Martin-Bell syndrome.

Authors:  T P Webb; S E Bundey; A I Thake; J Todd
Journal:  Am J Med Genet       Date:  1986 Jan-Feb
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  9 in total

1.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  Microdissection of the fragile X region.

Authors:  R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

Review 3.  The fragile X: progress toward solving the puzzle.

Authors:  W T Brown
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

4.  New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.

Authors:  F Rousseau; A Vincent; I Oberlé; J L Mandel
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

5.  Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.

Authors:  D Wöhrle; J P Fryns; P Steinbach
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 6.  The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

Authors:  B A Oostra; A J Verkerk
Journal:  Chromosoma       Date:  1992-04       Impact factor: 4.316

7.  Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Authors:  A Poustka; A Dietrich; G Langenstein; D Toniolo; S T Warren; H Lehrach
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

8.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

9.  Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

Authors:  G G Consalez; N S Thomas; C L Stayton; S J Knight; M Johnson; L C Hopkins; P S Harper; L J Elsas; S T Warren
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  9 in total

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