Literature DB >> 2900707

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

A Harris1, S Lankester, E Haan, J Beres, M Hulten, J Szollar, L Souttier, M Bobrow.   

Abstract

Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X-autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.

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Year:  1988        PMID： 2900707     DOI： 10.1111/j.1399-0004.1988.tb02607.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors:  A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 2.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Authors:  B R Migeon; J Axelman; S Jan de Beur; D Valle; G A Mitchell; K N Rosenbaum
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

4.  X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors:  E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

5.  An analysis of genotype effects and their interactions by using the apolipoprotein E polymorphism and longitudinal data.

Authors:  R Gueguen; S Visvikis; J Steinmetz; G Siest; E Boerwinkle
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

Review 6.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

7.  Apolipoprotein E polymorphism influences postprandial retinyl palmitate but not triglyceride concentrations.

Authors:  E Boerwinkle; S Brown; A R Sharrett; G Heiss; W Patsch
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

8.  Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

Authors:  C Hydén-Granskog; R Salonen; H von Koskull
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

9.  Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Authors:  J A Crolla; S Gilgenkrantz; J de Grouchy; T Kajii; M Bobrow
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132
  9 in total

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