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

Jonathan (Jon) Zonana, M. Jones, D. Browne, M. Litt, P. Kramer, H. W. Becker, N. Brockdorff, S. Rastan, K. P. Davies, A. Clarke, N. S T Thomas

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Abstract

The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xqll-q21.1. We have extended our previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analyses gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human/rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosities of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that cosegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXS732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively.

Original languageEnglish (US)
Pages (from-to)1036-1046
Number of pages11
JournalAmerican Journal of Human Genetics
Volume51
Issue number5
StatePublished - Nov 1992

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Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Genetic Recombination
Hybrid Cells

ASJC Scopus subject areas

  • Genetics

Cite this

Zonana, J. J., Jones, M., Browne, D., Litt, M., Kramer, P., Becker, H. W., ... Thomas, N. S. T. (1992). High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. American Journal of Human Genetics, 51(5), 1036-1046.

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. / Zonana, Jonathan (Jon); Jones, M.; Browne, D.; Litt, M.; Kramer, P.; Becker, H. W.; Brockdorff, N.; Rastan, S.; Davies, K. P.; Clarke, A.; Thomas, N. S T.

In: American Journal of Human Genetics, Vol. 51, No. 5, 11.1992, p. 1036-1046.

Research output: Contribution to journalArticle

Zonana, JJ, Jones, M, Browne, D, Litt, M, Kramer, P, Becker, HW, Brockdorff, N, Rastan, S, Davies, KP, Clarke, A & Thomas, NST 1992, 'High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus', American Journal of Human Genetics, vol. 51, no. 5, pp. 1036-1046.
Zonana, Jonathan (Jon) ; Jones, M. ; Browne, D. ; Litt, M. ; Kramer, P. ; Becker, H. W. ; Brockdorff, N. ; Rastan, S. ; Davies, K. P. ; Clarke, A. ; Thomas, N. S T. / High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. In: American Journal of Human Genetics. 1992 ; Vol. 51, No. 5. pp. 1036-1046.
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abstract = "The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xqll-q21.1. We have extended our previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analyses gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human/rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92{\%} of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosities of 72{\%} and 76{\%}, respectively, and when used jointly, they were doubly informative in 52{\%} of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that cosegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXS732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively.",
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AU - Kramer, P.

AU - Becker, H. W.

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AU - Clarke, A.

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