Báo cáo khoa học: A functional polymorphism at the transcriptional initiation site in b2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of b2-glycoprotein I
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Humanb2 -glycoprotein I (b2 GPI), also known as apolipo-protein H, has been implicated in haemostasis and the pro-duction ofanti-phospholipid antibodies. There is a wide range ofinterindividual variation in b2GPI plasma levels that is thought to be under genetic control, but itsmolecular basis remains unknown. To understand the genetic basis of b2GPI variation, we analyzed the 5¢ flanking region ofthe b2GPIgene for mutation detection by DHPLC and identi-fied a point mutation at the transcriptional initiation site ()1CfiA) with a carrier frequency of 12.1%. ...
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