Literature DB >> 3015770

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

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.   

Abstract

Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously been located at Xp22.31-p21.3 by in situ hybridisation. In the mouse hypophosphataemia (Hyp) maps to the distal part of the X chromosome; our location in man is consistent with a scheme which relates the mouse and human X chromosomes by two rearrangements. No marker has yet been found which shows no recombination with HPDR.

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Year:  1986        PMID： 3015770     DOI： 10.1007/bf00401242

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


  17 in total

1.  [Critical study of hypophosphatemia for genetic study of familial hypophosphatemic vitamin-resistant rickets].

Authors:  M L Briard-Guillemot; E Raverdy; S Balsan; J Rey; J Frézal
Journal:  Arch Fr Pediatr       Date:  1972-12

2.  Severe familial hypophosphatemic rickets. Normal growth following early treatment.

Authors:  E J Schoen; J B Reynolds
Journal:  Am J Dis Child       Date:  1970-07

3.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

4.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

5.  X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice.

Authors:  R A Meyer
Journal:  Am J Pathol       Date:  1985-02       Impact factor: 4.307

6.  Growth disturbance in hereditary hypophosphatemia.

Authors:  H E Harrison; H C Harrison; F Lifshitz; A D Johnson
Journal:  Am J Dis Child       Date:  1966-10

7.  Chromosome maps of man and mouse II.

Authors:  V J Buckle; J H Edwards; E P Evans; J A Jonasson; M F Lyon; J Peters; A G Searle; N S Wedd
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

8.  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

9.  X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele.

Authors:  E Keitges; M Rivest; M Siniscalco; S M Gartler
Journal:  Nature       Date:  1985 May 16-22       Impact factor: 49.962

10.  Patterns of matrix vesicle calcification in osteomalacia of Gyro mice.

Authors:  J Sela; I Bab; M S Deol
Journal:  Metab Bone Dis Relat Res       Date:  1982
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  25 in total

1.  Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases.

Authors:  E Pronicka; E Popowska; E Rowińska; D Piekutowska; M Oglecka; M Krajewska-Walasek
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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 3.  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

Review 4.  Molecular genetics of mineral metabolic disorders.

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

Review 5.  Gene mapping of mineral metabolic disorders.

Authors:  R V Thakker; K E Davies; J L O'Riordan
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  What is the risk of a lady with familial hypophosphatemic rickets having affected children and grandchildren.

Authors:  G Kainer; J C Chan
Journal:  Pediatr Nephrol       Date:  1989-10       Impact factor: 3.714

7.  Molecular genetics in the National Health Service in Britain.

Authors:  R Harris; R Elles; D Craufurd; A Dodge; A Ivinson; K Hodgkinson; R Mountford; M Schwartz; T Strachan; A Read
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

8.  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

Review 9.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

10.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025
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