Literature DB >> 2163973

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

M J Econs1, M A Pericak-Vance, H Betz, R J Bartlett, M C Speer, M K Drezner.   

Abstract

We undertook linkage analysis in four large North Carolina kindreds with X-linked hypophosphatemic rickets (HYP) using a newly defined polymorphic probe, derived from the 5' untranslated portion of the human glycine receptor (GLR). Two-point linkage analysis established linkage between GLR and HYP [Z(theta) = 7.91 at theta = 0.07] and confirmed linkage between HYP and DXS41 [Z(theta) = 8.31 at theta = 0.06] and DXS43 [Z(theta) = 5.94 at theta = 0.05]. Additionally, we found GLR tightly linked to DXS43 [Z(theta) = 5.40 at theta = 0.0]. Multipoint analysis indicated that GLR is on the telomeric side of HYP with a map order of Xpcen-DXS41-HYP-(GLR/DSX43).

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Year:  1990        PMID: 2163973     DOI: 10.1016/0888-7543(90)90180-3

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.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

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.  Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Authors:  Shoji Ichikawa; Elizabeth A Traxler; Selina A Estwick; Leah R Curry; Michelle L Johnson; Andrea H Sorenson; Erik A Imel; Michael J Econs
Journal:  Bone       Date:  2008-06-18       Impact factor: 4.398

5.  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

6.  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

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

Review 8.  Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia.

Authors:  P S Rowe
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

  8 in total

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