Literature DB >> 2877938

Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

S Kølvraa, T A Kruse, P K Jensen, K H Linde, S R Vestergaard, L Bolund.   

Abstract

EDA (ectodermal dysplasia, anhidrotic) is an X-linked recessive disorder characterized by hypohidrosis, hypoor anodontia, and hypotrichosis. A possible linkage between the gene for EDA and a number of restriction fragment length polymorphisms (RFLPs) spread over the X chromosome was investigated in two Danish families segregating EDA. No recombination between the gene for EDA and our probe pTAK8, which detects a two allele polymorphism in the region Xp11-q12, was found in nine informative meiotic events (seven of which are phase known), giving a maximal lod score of 2.41 at a recombination fraction of 0.00. This juxtacentromeric location of the gene for EDA agrees well with the linkage data obtained with the other markers used in this study.

Entities:  

Mesh:

Substances:

Year:  1986        PMID: 2877938     DOI: 10.1007/bf00282550

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


  23 in total

1.  An anonymous single copy X-chromosome clone, pTAK8, identifies a frequent RFLP at Xp11-q12(HGM8 no. DXS146).

Authors:  T A Kruse; P Ahrens; H M Albertsen; B Jørgensen; S R Vestergaard
Journal:  Nucleic Acids Res       Date:  1986-02-25       Impact factor: 16.971

2.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  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

4.  Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance.

Authors:  I A Crump; D M Danks
Journal:  J Pediatr       Date:  1971-03       Impact factor: 4.406

5.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

6.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

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

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

8.  [Value of sweat pores on fingerprints with organic silicium: a method for the detection of female carriers of anhydrotic ectodermal dysplasia].

Authors:  J M Laurent; G Fontaine
Journal:  J Genet Hum       Date:  1981-06

9.  Gene effect in carriers of anhidrotic ectodermal dysplasia.

Authors:  C B Kerr; R S Wells; K E Cooper
Journal:  J Med Genet       Date:  1966-09       Impact factor: 6.318

10.  Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia)

Authors:  N Freire-Maia; M Pinheiro
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

View more
  11 in total

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

Authors:  J Limon; J Filipiuk; B Nedoszytko; K Mrózek; M Castrén; M Larramendy; J Roszkiewicz
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

2.  Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

Authors:  S Gilgenkrantz; C Blanchet-Bardon; V Nazzaro; L Formiga; P Mujica; Y Alembik
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

3.  X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis.

Authors:  J Zonana; A Clarke; M Sarfarazi; N S Thomas; K Roberts; K Marymee; P S Harper
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

4.  Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.

Authors:  J Zonana; S H Roberts; N S Thomas; P S Harper
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

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

Authors:  A Hanauer; Y Alembik; B Arveiler; L Formiga; S Gilgenkrantz; J L Mandel
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

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

Authors:  J Goodship; S Malcolm; A Clarke; M E Pembrey
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

7.  Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta.

Authors:  G de Saint Basile; L D Notarangelo; C Bonaiti-Pellié; M Doussau; O Prolini; I W Craig; A Ugazio; C Griscelli; A Fischer
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

Review 8.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

Authors:  K D MacDermot; M Hultén
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

10.  Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Authors:  M Schwartz; H M Yang; E Niebuhr; T Rosenberg; D C Page
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.