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Characterization of hypervariable locus-specific probes derived from a (CAC)5/(GTG)5 multilocus fingerprint in various Eurasian populations
Authors:J. Hundrieser  P. Nürnberg  A. E. Czeizel  Julia Métneki  Siegrid Rothgänger  H. Zischler  J. T. Epplen
Affiliation:(1) Abteilung Humangenetik, Hannover, Germany;(2) Abteilung Pädiatrische Kardiologie der Medizinischen Hochschule Hannover, Hannover, Germany;(3) Institut für Medizinische Genetik der Medizinischen Fakultät (Charité) der Humboldt-Universität zu Berlin, Berlin, Germany;(4) Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary;(5) Max-Planck-Institut für Psychiatrie, Martinsried, Germany;(6) Molekulare Humangenetik, Ruhr-Universität, Bochum, Germany;(7) Transplantationslabor OE 6228, Klinik für Abdominal- und Transplantationschirurgie, Medizinische Hochschule Hannover, Konstanty-Gutschow-Strasse 8, 61 Hannover, Germany
Abstract:Summary Population genetic studies were performed using oligonucleotide probes (Hz1103, Hz4103, and Hz4201) that recognize three hypervariable loci (D11S859, D9S128 and D22S265) in the human genome. DNA from 17 Eurasian population samples including 37 monozygotic twin pairs were digested with HinfI and hybridized with Hz4103. Allele frequency distribution profiles and high degrees of heterozygosity were similar in each ethnic group. Among 804 unrelated individuals tested, we detected one case of mosaicism caused by a somatic recombination event in a monozygotic twin. In addition, samples of DNA from three ethnic groups (Germans, Assamese Hindus and Thais) and from German and Thai families were restricted with MboI and probed with Hz1103, Hz4103, and Hz4201. The results showed considerable degrees of heterozygosity and locus-specific allele distribution profiles, rather than interpopulation differences. Among 262 meioses (12 three-generation families with a total of 131 children) analyzed, a single recombination event was observed following hybridization with the DNA probe Hz4201.
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