Hayden M R, Kastelein J J, Funke H, Brunzell J D, Ma Y
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Biochem Soc Trans. 1993 May;21(2):506-9. doi: 10.1042/bst0210506.
We have described a large number of different mutations in the LPL gene that result in completely catalytically defective LPL protein. More recently exonic polymorphisms in the LPL gene have been described that do not result in the catalytic activity of LPL being significantly impaired. Furthermore we have recently described a patient who is homozygous for a mutation in the LPL gene in a conserved region of exon 5 that results only in partial residual activity and a very mild clinical phenotype. This may suggest that the frequency of mutations in the LPL gene is greater than has been previously recognized. Recognition and selection of patients for analysis was based on the phenotype of chylomicronaemia. However, the existence of the Ser172-Cys mutation in the LPL gene that results in only moderate hypertriglyceridaemia in the absence of environmental factors might suggest that mutations in this gene are more frequent and could be seen in patients with a milder clinical phenotype. The clue to detecting these changes in the LPL gene might be to investigate patients who present with chylomicronaemia due to different environmental triggers while, in the absence of these environmental factors, they have only moderate hypertriglyceridaemia.
我们已经描述了大量LPL基因中的不同突变，这些突变会导致LPL蛋白完全丧失催化活性。最近，有文献报道了LPL基因的外显子多态性，这些多态性不会导致LPL的催化活性显著受损。此外，我们最近描述了一名患者，该患者在第5外显子的保守区域存在LPL基因突变的纯合子，该突变仅导致部分残余活性和非常轻微的临床表型。这可能表明LPL基因的突变频率高于先前的认识。对患者的识别和选择进行分析是基于乳糜微粒血症的表型。然而，LPL基因中Ser172-Cys突变的存在，在没有环境因素的情况下仅导致中度高甘油三酯血症，这可能表明该基因的突变更为常见，并且可能在临床表型较轻的患者中出现。检测LPL基因这些变化的线索可能是调查那些由于不同环境触发因素而出现乳糜微粒血症的患者，而在没有这些环境因素的情况下，他们仅有中度高甘油三酯血症。
