Leonard J V, Whitelaw A G, Wolff O H, Lloyd J K, Slack J
Br Med J. 1977 Jun 18;1(6076):1566-8. doi: 10.1136/bmj.1.6076.1566.
The serum cholesterol concentrations of 134 children aged 1-16 years who had at least one first-degree relative with presumed familial hypercholesterolaemia showed a bimodal distribution, and, using the maximum likelihood technique, two overlapping curves could be fitted. The mean value of the affected children (heterozygotes) was 8-9 mmol/l and that of the unaffected 4-9 mmol/l. The two curves intersected at 6-77 mmol/l, and at this point 5% of the unaffected children had values over 6-77 mmol/l and 3-5% of the heterozygotes had values under 6-77 mmol/l. If this cholesterol concentration is used as a cut-off point 4-25% of cases would be misdiagnosed.
134名年龄在1至16岁之间、至少有一位一级亲属被推测患有家族性高胆固醇血症的儿童的血清胆固醇浓度呈双峰分布，并且使用最大似然技术，可以拟合出两条重叠曲线。受影响儿童（杂合子）的平均值为8至9毫摩尔/升，未受影响儿童的平均值为4至9毫摩尔/升。两条曲线在6至7.7毫摩尔/升处相交，此时5%的未受影响儿童的值超过6至7.7毫摩尔/升，3%至5%的杂合子的值低于6至7.7毫摩尔/升。如果将此胆固醇浓度用作分界点，4%至25%的病例将被误诊。
