Tenkanen H, Koskinen P, Metso J, Baumann M, Lukka M, Kauppinen-Mäkelin R, Kontula K, Taskinen M R, Mänttäri M, Manninen V
National Public Health Institute, First Department of Medicine, Helsinki, Finland.
Biochim Biophys Acta. 1992 Jan 16;1138(1):27-33. doi: 10.1016/0925-4439(92)90147-f.
We have identified a hitherto unknown genetic polymorphism of apolipoprotein A-IV (apoA-IV). The molecular basis for this polymorphism is an A to G substitution at nucleotide 1687 resulting in an Asn to Ser change of amino acid 127. The frequencies of the two apoA-IV alleles (designated apoA-IV127Asn and apoA-IV127Ser), determined by Hin c II restriction analysis of PCR amplified exon three of the apoA-IV gene, were 0.788 and 0.212, respectively, in a Finnish population sample. Allele frequencies of another polymorphism due to a Thr to Ser substitution at amino acid 347 were determined using Hinf I restriction analysis. The allele frequencies were 0.823 for apoA-IV347Thr and 0.177 for apoA-IV347Ser. None of the apoA-IV polymorphisms (apoA-IV127:Asn----Ser, apoA-IV347:Thr----Ser and apoA-IV360:Gln----His) had any effect on plasma lipid and lipoprotein concentrations in cohorts of dyslipidemic men and in a population sample of normolipidemic controls. There was also no association between the history of previous myocardial infarction and any of the apoA-IV alleles.
我们已经鉴定出一种迄今未知的载脂蛋白A-IV（apoA-IV）基因多态性。这种多态性的分子基础是核苷酸1687处的A到G替换，导致氨基酸127由天冬酰胺变为丝氨酸。通过对apoA-IV基因的PCR扩增外显子3进行Hin c II限制性分析确定的两种apoA-IV等位基因（分别命名为apoA-IV127Asn和apoA-IV127Ser）的频率，在芬兰人群样本中分别为0.788和0.212。使用Hinf I限制性分析确定了由于氨基酸347处苏氨酸到丝氨酸替换导致的另一种多态性的等位基因频率。apoA-IV347Thr的等位基因频率为0.823，apoA-IV347Ser的等位基因频率为0.177。在血脂异常男性队列和血脂正常对照人群样本中，apoA-IV多态性（apoA-IV127：Asn----Ser、apoA-IV347：Thr----Ser和apoA-IV360：Gln----His）均对血浆脂质和脂蛋白浓度没有任何影响。既往心肌梗死病史与任何apoA-IV等位基因之间也没有关联。
