A novel dimorphism in the human SRY gene: usefulness in human migration studies |
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Authors: | E Naito Kazuo Umetsu Isao Yuasa Koji Dewa Hirokazu Sumi Haruo Yamanouchi |
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Institution: | (1) Department of Legal Medicine, Niigata University School of Medicine, 1-757 Asahimachidori, Niigata 951-8510, Japan e-mail: eminaito@med.niigata-u.ac.jp, Tel.: +81-25-2272146, Fax: +81-25-2295184, JP;(2) Department of Legal Medicine, Yamagata University School of Medicine, Yamagata 990-2331, Japan, JP;(3) Department of Legal Medicine, Tottori University School of Medicine, Yonago 683-8503, Japan, JP |
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Abstract: | A nucleotide polymorphism of C or T was detected at position 465 in the sex-determining region Y (SRY) gene. To evaluate
the utility of this dimorphism in human population studies, the frequency and the frequency of the haplotype combined with
the two polymorphic loci YAP and M9 were examined in a total of 130 unrelated Japanese and 130 unrelated German males. The
T nucleotide was found in 24.6% (32/130) of the Japanese but not in any of the 130 German males. Accordingly, four of the
eight possible combination haplotypes of SRY/YAP/M9 were identified in the Japanese population, but one of the four haplotypes
comprising SRY(T) was absent in the German samples. This suggests that the C to T transition may be more recent than the YAP
insertion or the M9 transversion and the change might have occurred in an ancestral Asian population. These results imply
that the dimorphism at the SRY gene is one of the Y-linked markers useful for human population studies and also for ethnic
identification of forensic samples.
Received: 9 March 1999 / Accepted: 9 September 1999 |
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Keywords: | SRY gene Single nucleotide polymorphism YAP element M9 mutation Japanese German |
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