Literature DB >> 1979046

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

R V Thakker1, K E Davies, A P Read, P Tippett, C Wooding, T Flint, S Wood, T A Kruse, M P Whyte, J L O'Riordan.   

Abstract

The human X-linked hypophosphatemic rickets gene locus (HYP, formerly HPDR) has been previously localized by linkage analysis to Xp22.31-Xp21.3 and the locus order Xpter-DXS43-HYP-DXS41-Xcen established. Recombination between HYP and these flanking markers is frequently observed and additional markers have been sought. The polymorphic loci DXS197 and DXS207 have been localized to Xpter-Xp11 and Xp22-Xp21, respectively. We have further localized DXS197 to Xpter-Xp21.3 by using a panel of rodent-human hybrid cells and have established the map positions of DXS197 and DXS207 in relation to HYP by linkage studies of hypophosphatemic rickets families. Linkage between DXS197 and the loci DXS43, DXS85, and DXS207 was established with peak lod score values of 6.19, 0 = 0.032; 4.14, 0 = 0.000; and 3.01, 0 = 0.000, respectively. Multilocus linkage analysis mapped the DXS197 and DXS207 loci distal to HYP and demonstrated the locus order Xpter-DXS85-(DXS207, DXS43, DXS197)-HYP-DXS41-Xcen. These additional genetic markers DXS197 and DXS207 will be useful as alternative markers in the genetic counseling of some families.

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Year:  1990        PMID: 1979046     DOI: 10.1016/0888-7543(90)90271-u

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  8 in total

1.  Three DNA markers for hypophosphataemic rickets.

Authors:  P S Rowe; A P Read; R Mountford; F Benham; T A Kruse; G Camerino; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

Review 2.  Molecular genetics of mineral metabolic disorders.

Authors:  R V Thakker
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  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

4.  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

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

Authors:  P S Rowe; J Goulding; A Read; H Lehrach; F Francis; A Hanauer; C Oudet; V Biancalana; S W Kooh; K E Davies
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

6.  Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Authors:  C Oudet; C Weber; J Kaplan; B Segues; M F Croquette; E O Roman; A Hanauer
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

Review 7.  X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage.

Authors:  C R Scriver; H S Tenenhouse
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Authors:  V Biancalana; M L Briard; A David; S Gilgenkrantz; J Kaplan; M Mathieu; C Piussan; J Poncin; A Schinzel; C Oudet
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

  8 in total

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