Ferns G A, Galton D J
Hum Genet. 1986 Jul;73(3):245-9. doi: 10.1007/BF00401237.
Restriction fragment length polymorphisms of the apoprotein AI-CIII-AIV gene cluster (on the long arm of chromosome 11) were investigated in a group of Caucasian survivors of myocardial infarction, using genomic hybridisation analysis. Four common haplotypes were identified at this locus, M1P1S1, M2P1S1, M1P2S1, and M2P1S2; where M1 and M2 are the common and uncommon alleles defined using the restriction enzyme MspI, P1 and P2 are the common and uncommon alleles defined by the enzyme PstI, and S1 and S2 are the common and uncommon alleles defined by the enzyme SstI. Seven genotype combinations were observed of approximate frequencies; a/a 0.70 (33/47), a/d 0.15 (7/47), a/b 0.04 (2/47), d/d 0.04 (2/47), a/c 0.02 (1/47), b/c 0.02 (1/47), and c/d 0.02 (1/47). In contrast the corresponding values for normotriglyceridaemic Caucasian controls, without a personal or family history of atherosclerotic heart disease were; 0.83 (40/48), 0.02 (1/48), 0.06 (3/48), 0, 0.04 (2/48), 0.04 (2/48), and 0. The relative incidence of the d haplotype, characterised by the presence of a cleavage site for the enzyme SstI in the fourth exon of the ApoCIII gene, was significantly higher in the patient group (P less than 0.01). However, because of the tight linkage between the polymorphic loci studied, it was not possible to identify haplotypes associated with any greater risk of premature atherosclerosis than when the SstI polymorphism was considered in isolation.
运用基因组杂交分析法，对一组患心肌梗死的高加索幸存者载脂蛋白AI - CIII - AIV基因簇（位于11号染色体长臂）的限制性片段长度多态性进行了研究。在该位点鉴定出四种常见单倍型，即M1P1S1、M2P1S1、M1P2S1和M2P1S2；其中M1和M2是使用限制性内切酶MspI定义的常见和罕见等位基因，P1和P2是由酶PstI定义的常见和罕见等位基因，S1和S2是由酶SstI定义的常见和罕见等位基因。观察到七种基因型组合，其频率大致如下：a/a 0.70（33/47），a/d 0.15（7/47），a/b 0.04（2/47），d/d 0.04（2/47），a/c 0.02（1/47），b/c 0.02（1/47），以及c/d 0.02（1/47）。相比之下，无动脉粥样硬化性心脏病个人或家族史的正常甘油三酯血症高加索对照的相应值为：0.83（40/48），0.02（1/48），0.06（3/48），0，0.04（2/48），0.04（2/48），以及0。以载脂蛋白CIII基因第四外显子中存在SstI酶切位点为特征的d单倍型在患者组中的相对发生率显著更高（P小于0.01）。然而，由于所研究的多态性位点之间紧密连锁，与单独考虑SstI多态性时相比，无法鉴定出与早发性动脉粥样硬化风险更高相关的单倍型。
