Hubacek J A, Pistulková H, Skodová Z, Poledne R
Laboratory of Atherosclerosis Research and.
Exp Clin Cardiol. 2001 Spring;6(1):38-40.
Xba I polymorphism in the apolipoprotein (apo) B gene has often been studied in connection with myocardial infarction, coronary artery disease and plasma lipid concentrations. The X2 allele (restriction site present) is often mentioned as a disadvantageous one. Low birth weight has also been described as a risk factor for hyperlipidemia.
To study the Xba I polymorphism in the apo B gene.
Southern blot or polymerase chain reaction was used in two groups of children (low and high cholesterolemic, 82 and 86 children, respectively), selected from 2000 children with known birth weight.
In the subgroup of high cholesterolemic children with birth weight under 3.00 kg, the X1/X1 (P=0.056) genotype was found at a lower frequency. No similar association was shown in low cholesterolemic children.
Xba I polymorphism is in a strong linkage disequilibrium with Ala (591) --> Val polymorphism in apo B, which influences postprandial lipemia and so, possibly, intrauterine nutrition and, consequently, birth weight. These results suggest that, in lower birth weight probands, X1/X1 homozygosity of Xba I polymorphism in the apo B gene may protect against the development of hypercholesterolemia, at least in childhood.
载脂蛋白（apo）B基因中的Xba I多态性常与心肌梗死、冠状动脉疾病及血脂浓度相关联进行研究。X2等位基因（存在限制性酶切位点）常被认为是不利的。低出生体重也被描述为高脂血症的一个危险因素。
研究apo B基因中的Xba I多态性。
从2000名已知出生体重的儿童中选取两组儿童（高胆固醇血症组和低胆固醇血症组，分别为82名和86名儿童），采用Southern印迹法或聚合酶链反应进行检测。
在出生体重低于3.00 kg的高胆固醇血症儿童亚组中，X1/X1基因型的出现频率较低（P = 0.056）。低胆固醇血症儿童未显示出类似的关联。
Xba I多态性与apo B基因中Ala（591）→Val多态性存在强连锁不平衡，后者影响餐后血脂，进而可能影响宫内营养，最终影响出生体重。这些结果表明，在低出生体重的先证者中，apo B基因Xba I多态性的X1/X1纯合性可能至少在儿童期可预防高胆固醇血症的发生。
