Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts (original) (raw)

Summary

The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.

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Author notes

1. L. Roewer
   Present address: Institut für Gerichtliche Medizin der Humboldt-Universität (Charité), 0-1040, Berlin, Federal Republic of Germany
2. J. T. Epplen
   Present address: Molekulare Humangenetik der Ruhr-Universität, MA, Universitätsstrasse 150, W-4630, Bochum, Federal Republic of Germany

Authors and Affiliations

1. Max-Planck-Institut für Psychiatrie, W-8033, Martinsried, Federal Republic of Germany
   L. Roewer & J. T. Epplen
2. National Institute for Medical Research, Mill Hill, London, UK
   J. Amemann
3. Imperial Cancer Research Fund, South Mimms, Potters Bar, EN6 3LD, Herts, UK
   N. K. Spurr
4. Institut für Humangenetik der Universität, Bahnhofstrasse 12, W-3550, Marburg, Federal Republic of Germany
   K.-H. Grzeschik

Authors

1. L. Roewer
2. J. Amemann
3. N. K. Spurr
4. K.-H. Grzeschik
5. J. T. Epplen

Additional information

Professor Dr. Otto Prokop (Humboldt-Universität Berlin) on the occasion of his 70th birthday

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Roewer, L., Amemann, J., Spurr, N.K. et al. Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts.Hum Genet 89, 389–394 (1992). https://doi.org/10.1007/BF00194309

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• Received: 16 October 1991
• Revised: 09 December 1991
• Issue date: June 1992
• DOI: https://doi.org/10.1007/BF00194309

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