Literature DB >> 2902795

Improved DNA markers for efficient analysis of fragile X families.

R Heilig1, I Oberlé, B Arveiler, A Hanauer, M Vidaud, J L Mandel.   

Abstract

We report the characteristics of two new probes that detect BclI RFLPs useful for analysis of fragile X families. With these two probes and a single blot, 34% of women are heterozygous both for the proximal marker DXS105 (closer to the fragile X locus than the factor IX gene) and for the distal markers DXS52 or the factor VIII gene. Combined with the analysis of previously described polymorphic markers, it is possible to have a majority of families fully informative for flanking markers using a limited number of probes and restriction digests.

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Year:  1988        PMID： 2902795     DOI： 10.1002/ajmg.1320300156

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


  13 in total

1.  Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

Authors:  L Strain; A F Wright; D T Bonthron
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Authors:  A M Nordström; M Penttinen; H von Koskull
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

3.  A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

Authors:  I Lorda-Sanchez; F Binkert; M Maechler; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

4.  A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Authors:  I Lorda-Sanchez; M B Petersen; F Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; A Schinzel
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

5.  New distal marker closely linked to the fragile X locus.

Authors:  T J Hulsebos; B A Oostra; S Broersen; A Smits; B A van Oost; A Westerveld
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Authors:  M A Voelckel; N Philip; C Piquet; M C Pellissier; I Oberlé; F Birg; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

7.  Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Authors:  A Sefiani; R M'rad; L Simard; A Vincent; C Julier; L Holvoet-Vermaut; S Heuertz; N Dahl; J F Stalder; M O Peter
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

8.  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

9.  X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.

Authors:  D G Bichet; G N Hendy; M Lonergan; M F Arthus; S Ligier; Z Pausova; R Kluge; H Zingg; P Saenger; E Oppenheimer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

10.  Reduced recombination and paternal age effect in Klinefelter syndrome.

Authors:  I Lorda-Sanchez; F Binkert; M Maechler; W P Robinson; A A Schinzel
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132
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