Dürr C, Hinney A, Luckenbach C, Kömpf J, Ritter H
Institut für Anthropologie und Humangenetik der Universität, Tübingen, Federal Republic of Germany.
Hum Genet. 1992 Dec;90(4):457-9. doi: 10.1007/BF00220477.
Antithrombin III (AT III) was analyzed by two different methods. Isoelectric focusing was used to screen 3 different populations (southwest Germans, Portuguese, Xavante Indians). The same variant was detected both in the German and the Portuguese populations with frequencies of 0.007 and 0.00024, respectively. Further characterization of this variant was performed by allele specific oligonucleotides. By this means, it was possible to identify the variant as AT III Dublin, originally found in 4 Irish families.
采用两种不同方法对抗凝血酶III（AT III）进行分析。利用等电聚焦技术对三个不同人群（德国西南部人群、葡萄牙人群、沙万特印第安人）进行筛查。在德国人和葡萄牙人群中均检测到同一变异体，其频率分别为0.007和0.00024。通过等位基因特异性寡核苷酸对该变异体进行进一步鉴定。通过这种方法，有可能将该变异体鉴定为最初在4个爱尔兰家族中发现的AT III都柏林变异体。
