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Literature DB >> 8096494

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

C Hydén-Granskog¹, R Salonen, H von Koskull.

Abstract

The locus (IP2) for the hereditary form of incontinentia pigmenti (IP) has been mapped to Xq28 by linkage analysis. We studied three IP families with polymorphic markers in the Xq28 region. In two families we observed recombination between the marker loci and IP. In the third family no crossing overs were seen and linkage to the Xq28 region could not be excluded. The other IP locus (IP1) has been mapped to Xp11.21, because of sporadic cases of IP with X-chromosomal alterations involving Xp11.21. To check whether this locus is linked to IP in these families, we used polymorphic markers in the Xp11 region. In all three families recombinations were observed, thus excluding linkage to this locus in these IP families.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1993 PMID： 8096494 DOI： 10.1007/bf00222723

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

32 in total

1. New polymorphic DNA marker close to the fragile site FRAXA.

Authors: B A Oostra; P E Hupkes; L F Perdon; C A van Bennekom; E Bakker; D J Halley; M Schmidt; D Du Sart; A Smits; B Wieringa
Journal: Genomics Date: 1990-01 Impact factor: 5.736

2. Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

Authors: N J Fraser; Y Boyd; I Craig
Journal: Genomics Date: 1989-07 Impact factor: 5.736

3. A new DNA marker tightly linked to the fragile X locus (FRAXA).

Authors: G K Suthers; D F Callen; V J Hyland; H M Kozman; E Baker; H Eyre; P S Harper; S H Roberts; M C Hors-Cayla; K E Davies
Journal: Science Date: 1989-12-08 Impact factor: 47.728

4. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

Authors: R Bernstein; B Dawson; R Kohl; T Jenkins
Journal: J Med Genet Date: 1979-08 Impact factor: 6.318

Review 1. Incontinentia pigmenti nomenclature.

Authors: V P Sybert
Journal: Am J Hum Genet Date: 1994-07 Impact factor: 11.025

2. De novo mutation in three families with multigenerational incontinentia pigmenti.

Authors: A Scheuerle; R A Lewis; M L Levy; D L Nelson
Journal: Am J Hum Genet Date: 1994-12 Impact factor: 11.025

2 in total

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

1. New polymorphic DNA marker close to the fragile site FRAXA.

2. Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

3. A new DNA marker tightly linked to the fragile X locus (FRAXA).

4. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

5. Linkage studies in a large fragile X family.

6. Two cases of X/autosome translocation in females with incontinentia pigmenti.

7. Studies of a family with incontinentia pigmenti variably expressed in both sexes.

8. Incontinentia pigmenti: XXY male with a family history.

9. Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

10. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

Review 1. Incontinentia pigmenti nomenclature.

2. De novo mutation in three families with multigenerational incontinentia pigmenti.