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Literature DB >> 2902000

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

A Hanauer¹, Y Alembik, B Arveiler, L Formiga, S Gilgenkrantz, J L Mandel.

Abstract

Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic locus, DXS159, located in Xq11-q12 (z (theta) = 4.28 at theta = 0.05). Physical mapping places DSX159 proximal to the Xq12 breakpoint of an X autosome translocation found in a female with clinical signs of ectodermal dysplasia. Of all markers that have been used in linkage analysis of AED, DXS159 would appear the closest on the proximal side of the disease locus.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1988 PMID： 2902000 DOI： 10.1007/bf00702863

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

19 in total

1. Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors: I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal: Hum Genet Date: 1986-01 Impact factor: 4.132

2. Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors: K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal: Cytogenet Cell Genet Date: 1987

3. A stain for sweat pores.

Authors: L Juhlin; W B Shelley
Journal: Nature Date: 1967-01-28 Impact factor: 49.962

4. Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

Authors: P S Gerald; J A Brown
Journal: Cytogenet Cell Genet Date: 1974

5. A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12.

Authors: B Arveiler; M H Hofker; A A Bergen; J L Mandel
Journal: Nucleic Acids Res Date: 1987-07-24 Impact factor: 16.971

6. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.

Authors: A Clarke; M Sarfarazi; N S Thomas; K Roberts; P S Harper
Journal: Hum Genet Date: 1987-04 Impact factor: 4.132

7. Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

Authors: R Happle; P J Frosch
Journal: Clin Genet Date: 1985-05 Impact factor: 4.438

8. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

Authors: S V Hodgson; M E Robertson; C N Fear; J Goodship; S Malcolm; B Jay; M Bobrow; M E Pembrey
Journal: Hum Genet Date: 1987-03 Impact factor: 4.132

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

1. Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

2. Report of the committee on the genetic constitution of the X and Y chromosomes.

3. A stain for sweat pores.

4. Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

5. A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12.

6. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.

7. Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

8. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

9. Gene effect in carriers of anhidrotic ectodermal dysplasia.

10. Assignment of a structural gene for beta-glucuronidase to human chromosome C7.

1. Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.

2. X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

3. Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

4. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

5. Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.