Li S R, Baroni M G, Oelbaum R S, Stock J, Galton D J
Medical Professorial Unit, St Bartholomew's Hospital, London.
Lancet. 1988 Aug 13;2(8607):368-70. doi: 10.1016/s0140-6736(88)92836-x.
A DNA sequence polymorphism, revealed by digestion of genomic DNA with the endonuclease Xba1 and hybridisation with a complementary DNA clone for a human glucose transporter, yields two alleles (sizes 6.2 kbp, the X1 allele; or 5.9 kbp, the X2 allele). The genotype frequencies were investigated in three non-insulin-dependent diabetic populations. The frequencies (%) of X1.X1, X1.X2, and X2.X2 were 13, 51, and 36 among 89 North European diabetic subjects, and 8, 38, 54 among their 104 controls (chi 2 test p less than 0.02; G-test p less than 0.02). For 53 South European diabetic patients the frequencies were 19, 50, 31, and for their 41 controls they were 2, 58, 40 (chi 2 test p less than 0.02; G-test p less than 0.01). The corresponding figures were 6, 55, 39 for 45 Japanese patients and 0, 28, 72 for a further 49 controls (chi 2 test p less than 0.01; G-test p less than 0.001). The occurrence of the association of the X1 allele with diabetes in three separate populations suggests that the polymorphic site may be close to a diabetogenic locus on chromosome 1.
用核酸内切酶Xba1消化基因组DNA，并与人类葡萄糖转运蛋白的互补DNA克隆杂交，揭示出一种DNA序列多态性，产生两个等位基因（大小分别为6.2千碱基对，即X1等位基因；或5.9千碱基对，即X2等位基因）。在三个非胰岛素依赖型糖尿病群体中研究了基因型频率。在89名北欧糖尿病患者中，X1.X1、X1.X2和X2.X2的频率（%）分别为13、51和36，在其104名对照中分别为8、38、54（卡方检验p<0.02；G检验p<0.02）。对于53名南欧糖尿病患者，频率分别为19、50、31，对于其41名对照，频率分别为2、58、40（卡方检验p<0.02；G检验p<0.01）。对于45名日本患者，相应数字为6、55、39，对于另外49名对照，数字为0、28、72（卡方检验p<0.01；G检验p<0.001）。X1等位基因与糖尿病在三个不同群体中的关联出现，表明该多态性位点可能靠近1号染色体上的一个致糖尿病基因座。
