Summary
Genetic linkage studies were carried out in families with X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). A DNA probe DXYS1 (pDP34), which maps both to the proximal part of the long arm of the X chromosome, Xq13-Xq21, and proximally on Yp, was used to detect a TaqI restriction fragment length polymorphism of the X-chromosomal locus in the DNA samples from 11 families. This locus was found to be closely linked to the X-linked hypohidrotic ectodermal dysplasia locus, with a lod score of 2.66 at recombination fraction (θ) of 0.06 (90% confidence limits 0.01–0.26). Only one crossover was observed in nineteen meioses. This indicates that the probe DXYS1 is closely linked to the X-linked hypohidrotic ectodermal dysplasia locus and is likely to facilitate carrier detection and prenatal diagnosis tests.
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References
Buckle VJ, Edwards JH, Evans EP, Jonasson JA, Lyon MF, Peters J, Searle AG, Wedd NS (1985) Comparative maps of human and mouse chromosomes. (8th International Workshop on Human Gene Mapping.) Cytogenet Cell Genet 40:594–595
Gerald PS, Brown JA (1974) Report of the Committee on the Genetic Constitution of the X Chromosome. Cytogenet Cell Genet 13:29–34
Hodgson SV, Neville B, Jones RWA, Fear C, Bobrow M (1985) Two cases of X/autosomal translocation in females with incontinentia pigmenti. Hum Genet 71:231–234
Kerr CB, Wells RS, Cooper KE (1966) Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Genet 3:169–176
Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16:389–392
Mossmann J, Blunt S, Stephens R, Jones EE, Pembrey M (1983) Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child 58:911–915
Old JM, Higgs DR (1983) Gene analysis. The thalassaemias. In: Weatherall DJ (ed) Methods in haematology, vol 66. Churchill Livingstone, Edinburgh, pp 74–102
Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Page DC, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition from the X chromosome long arm to the Y chromosome short arm during human evolution. Nature 311:119–123
Pinheiro M, Freire-Maia N (1979) Christ-Siemens-Touraine Syndrome — a clinical and genetic analysis of a large Brazilian kindred. I. Affected females. Am J Med Genet 4:113–122
Reed WB, Lopez DA, Landing B (1970) Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Dermatol 102:132–143
Southern E (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Stevenson AC, Kerr CB (1967) On the distributions of frequencies of mutation to genes determining harmful traits in man. Mutat Res 4:339–352
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MacDermot, K.D., Winter, R.M. & Malcolm, S. Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). Hum Genet 74, 172–173 (1986). https://doi.org/10.1007/BF00282084
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DOI: https://doi.org/10.1007/BF00282084