Literature DB >> 8125480

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

P S Rowe1, J Goulding, A Read, H Lehrach, F Francis, A Hanauer, C Oudet, V Biancalana, S W Kooh, K E Davies.   

Abstract

We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) and cosmid contig. The genetic data were enhanced after the isolation of a large 1.2-megabase YAC derived from AFM163yh2, in which marker DXS274 was present but not DXS365 or DXS443. Against HYP, DXS365, AFM163yh2 and DXS443 showed no recombinants (Zmax = 18.1, Zmax = 9.9, and Zmax = 16.0 respectively). DXS999 gave Zmax = 9.6 at 4% recombination and lies distal to HYP but proximal to DXS197 and DXS43. The disease gene and markers AFM163yh2 and DXS365 are flanked by DXS443 and DXS274. Combining the genetic and physical data, we are able to propose the following gene marker order: Xptel-DXS43-DXS197-DXS999-DXS443-[(DXS3 65-AFM163yh2), HYP]-DXS274-DXS41-Xcen.

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Year:  1994        PMID： 8125480     DOI： 10.1007/bf00212025

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Refined localization of the gene causing X-linked juvenile retinoschisis.

Authors:  T Alitalo; T A Kruse; A de la Chapelle
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

3.  Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Authors:  T Alitalo; T A Kruse; P Ahrens; H M Albertsen; A W Eriksson; A de la Chapelle
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

4.  Use of Alu-PCR to characterize hybrids containing multiple fragments and to generate new Xp21.3-p22.2 markers.

Authors:  F Benham; P Rowe
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

5.  Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families.

Authors:  R V Thakker; K E Davies; A P Read; P Tippett; C Wooding; T Flint; S Wood; T A Kruse; M P Whyte; J L O'Riordan
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

6.  Bridging markers defining the map position of X linked hypophosphataemic rickets.

Authors:  R V Thakker; A P Read; K E Davies; M P Whyte; R Weksberg; F Glorieux; M Davies; R C Mountford; R Harris; A King
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

7.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

8.  New markers for linkage analysis of X-linked hypophosphataemic rickets.

Authors:  P S Rowe; J Goulding; A Read; R Mountford; A Hanauer; C Oudet; M P Whyte; S Meier-Ewert; H Lehrach; K E Davies
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

9.  Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

Authors:  A P Read; R V Thakker; K E Davies; R C Mountford; D P Brenton; M Davies; F Glorieux; R Harris; G N Hendy; A King
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

10.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205
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  12 in total

1.  Improved genetic mapping of X linked retinoschisis.

Authors:  N D George; S J Payne; R M Bill; D E Barton; A T Moore; J R Yates
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

2.  Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets.

Authors:  Doron Bresler; Jan Bruder; Klaus Mohnike; William D Fraser; Peter S N Rowe
Journal:  J Endocrinol       Date:  2004-12       Impact factor: 4.286

3.  Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

Authors:  I A Holm; X Huang; L M Kunkel
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

Authors:  D Trump; G Pilia; P H Dixon; C Wooding; R Thakrar; S E Leigh; R Nagaraja; M P Whyte; D Schlessinger; R V Thakker
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

Review 5.  X linked retinoschisis.

Authors:  N D George; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

6.  X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.

Authors:  K H Orstavik; R E Orstavik; J Halse; J Knudtzon
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

Review 7.  Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway.

Authors:  Peter S N Rowe
Journal:  Crit Rev Eukaryot Gene Expr       Date:  2012       Impact factor: 1.807

8.  Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion.

Authors:  G I Baroncelli; S Bertelloni; G Perri; G Saggese
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

9.  The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).

Authors:  P S Rowe; J N Goulding; F Francis; C Oudet; M J Econs; A Hanauer; H Lehrach; A P Read; R C Mountford; T Summerfield; J Weissenbach; W Fraser; M K Drezner; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

10.  Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Authors:  J C Oosterwijk; M J van der Wielen; E van de Vosse; E Voorhoeve; E Bakker
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318
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