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目的观察儿童血脂谱水平与载脂蛋白Ｂ（ＡｐｏＢ）基因变异的关系。方法对９３名８～１１岁汉族儿童进行了ＡｐｏＢ基因ＸｂａⅠ位点多态性基因型频率及基因型与血脂谱水平关系的研究。结果此人群中ＸｂａⅠ位点优势等位基因Ｘ－频率为０．９６７，少见等位基因Ｘ＋频率为０．０３３；Ｘ－Ｘ＋基因型者（此人群中无Ｘ＋Ｘ＋者）血浆总胆固醇、低密度脂蛋白－胆固醇（ＬＤＬ－ｃｈ）水平均值（４．５９和２．９８ｍｍｏｌ／Ｌ）显著高于Ｘ－Ｘ－基因型者（３．８４和２．３２ｍｍｏｌ／Ｌ），全部６例Ｘ－Ｘ＋者中的４例，其总胆固醇和／或ＬＤＬ－ｃｈ测定值分别超过了Ｐ９０，显示了Ｘ＋等位基因与高血浆胆固醇水平的联系。结论ＡｐｏＢ基因ＸｂａⅠ位点多态性与儿童血脂谱水平有一定程度的关联，有可能是儿童血脂谱水平异常的遗传标志之一。
Objective To observe the relationship between serum lipid profile and ApoB gene mutation in children. Methods A total of 93 Han children aged 8-11 years were enrolled in this study. The genotypes and lipid profile of ApoB genotypes were analyzed. Results The frequency of XbaI allele X-frequency was 0.967 and the frequency of rare allele X + was 0.033 in this population. Plasma total cholesterol, low density The mean LDL-cholesterol levels (4.59 and 2.98 mmol / L) were significantly higher in those with X-X-genotypes (3.84 and 2.32 mmol / L) Of the 4 patients, their total cholesterol and / or LDL-ch values exceeded P90, respectively, indicating a link between the X + allele and high plasma cholesterol levels. Conclusion ApoB gene polymorphism at Xba Ⅰ locus has some correlation with the level of serum lipids in children, which may be one of the genetic markers of abnormal blood lipid profile in children.