caa a22 4500 475787331 CHVBK 20180406123702.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/s004149900118 doi (NATIONALLICENCE)springer-10.1007/s004149900118 Molecular analysis of the human orosomucoid gene ORM1*Q0köln responsible for incompatibility in a German paternity case [Elektronische Daten] [H. Nakamura, I. Yuasa, K. Umetsu, J. Henke, L. Henke, E. Nanba, K. Kimura] In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.9999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0köln, increased the probability of paternity. Springer-Verlag Berlin Heidelberg, 2000 Key words Isolated exclusion nationallicence Null allele nationallicence Orosomucoid gene nationallicence Paternity case nationallicence Reverse nationallicence homozygosity nationallicence Nakamura H. Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501 Japan, JP aut Yuasa I. Department of Legal Medicine, Tottori University School of Medicine, Yonago, 683-8503 Japan e-mail: yuasai@grape.med.tottori-u.ac.jp, Tel.: +81-859-348030, Fax: +81-859-348076, JP aut Umetsu K. Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, 990-9585 Japan, JP aut Henke J. Institut für Blutgruppenforschung, 50501 Cologne, Germany, DE aut Henke L. Institut für Blutgruppenforschung, 50501 Cologne, Germany, DE aut Nanba E. Gene Research Center, Tottori University, Yonago, 683-8503 Japan, JP aut Kimura K. Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501 Japan, JP aut https://doi.org/10.1007/s004149900118 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004149900118 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nakamura H. Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501 Japan, JP aut NATIONALLICENCE 700 1- Yuasa I. Department of Legal Medicine, Tottori University School of Medicine, Yonago, 683-8503 Japan e-mail: yuasai@grape.med.tottori-u.ac.jp, Tel.: +81-859-348030, Fax: +81-859-348076, JP aut NATIONALLICENCE 700 1- Umetsu K. Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, 990-9585 Japan, JP aut NATIONALLICENCE 700 1- Henke J. Institut für Blutgruppenforschung, 50501 Cologne, Germany, DE aut NATIONALLICENCE 700 1- Henke L. Institut für Blutgruppenforschung, 50501 Cologne, Germany, DE aut NATIONALLICENCE 700 1- Nanba E. Gene Research Center, Tottori University, Yonago, 683-8503 Japan, JP aut NATIONALLICENCE 700 1- Kimura K. Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501 Japan, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer