Genetic polymorphisms of orosomucoid and alpha-2-HS-glycoprotein in Thai,Sri Lankan and Paraguayan populations

The genetic polymorphism of orosomucoid (ORM) and alpha-2-HS-glycoprotein (AHSG) were studied in Thai, Sri Lankan and Paraguayan populations using isoelectric focusing. Gene frequencies in these populations were compared with those in other populations. Four new ORM variants were detected:ORM1 ^* 15 in Thai,ORM1 ^* 16 in Paraguayan,ORM2 ^* 21 andORM2 ^* 22 in Sri Lankan.     

α1-酸性糖蛋白基因多态性对去甲替林游离药物浓度的影响

为研究在人体内ORM1基因多态性对去甲替林游离药物浓度的影响， 首先采用测序对ORM1进行基因型分析。挑选出ORM1*F1/*F1， ORM1*F1/*S， ORM1*S/*S个体各6人， 进行临床试验。试验当日早上空腹口服去甲替林25 mg， 分别于0， 1， 2， 3， 4， 6， 8， 12， 24， 32， 48， 72， 96和168 h采外周静脉血5 mL， 运用HPLC-MS/MS分别测定血清中去甲替林总药物浓度、10-OH-去甲替林药物浓度及超滤液中去甲替林游离药物浓度，分析不同基因型间去甲替林各药代动力学参数的差异。结果表明不同基因型个体间总去甲替林和10-OH-去甲替林各药代动力学参数，差别无统计学意义。而对于ORM1*F1/*F1基因型个体，血浆中游离药物总量约为ORM1*F1/*S和ORM1*S/*S的2倍， 差别有统计学意义(P<0.05)。去甲替林平均血浆蛋白结合率约为(94.81±1.91)%。在服药后2， 3， 4， 6， 8和12 h， ORM1*F1/*F1基因型个体血浆蛋白结合率均低于其余两种基因型个体， 在T_max(4 h)左右， 差异更为显著(P<0.05)。ORM1不同基因型对去甲替林血浆蛋白结合率和游离药物浓度均存在影响，表现为ORM1*S/*S基因型个体结合药物的能力强于其他两种基因型个体，从而导致血清中去甲替林游离血药浓度较低。     

Genetic polymorphism of orosomucoid (ORM1 and ORM2) in Lombardy (Italy)

Summary Orosomucoid subtypes have been analysed in 600 unrelated individuals from the Brescia Area (Lombardy-Italy) by the isoelectric focusing technique and immunoprinting. Five ORMI phenotypes were observed. The ORM2 pattern was found to be virtually monomorphic, but one variant with an additional single band was found. The estimated allele frequencies were: ORM1^*F1 = 0.5992, ORM1^*F2 = 0.0150, ORM1^*S = 0.3858.     

ORM1型检测在法科学中的应用研究

作者用超薄层聚丙烯酰胺凝胶等电聚焦法（ＵＬＰＡＧＩＦ）检测了人血痕中类粘蛋白（ＯＲＭ１）的遗传表型，探讨了不同保存温度及保存时间对血痕中ＯＲＭ１型检测结果的影响。结果表明，４℃及室温保存的血痕２４周内仍能１００％检出ＯＲＭ１型，３７℃保存的血痕１２周内可以１００％检出，之后检出率逐渐降低。血痕经超声波处理后１年内仍可１００％检出ＯＲＭ１型，而未经处理的血痕则不能全部检出。检测血清ＯＲＭ１型进行亲子鉴定，共做５个案例，其中１例排除了被控父亲。     

Genetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population: occurrence of new ORM1 alleles

Summary Genetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population from northern Japan were investigated using isoelectric focusing (IEF) in ultrathin layer polyacrylamide gels containing Triton X-100 and immunofixation. Nine ORM1 phenotypes which are determined by four common and one rare alleles were observed. Two of the identified alleles at this locus were considered to be new. The ORM2 pattern was classified into 14 phenotypes as products of one common and two variant alleles. The estimated allele frequencies were ORM1*1=0.668, ORM1*2=0.170, ORM1*2.1=0.136, ORM1*5.2=0.022 and ORM1*7=0.004; ORM2*1=0.972, ORM2*3=0.006 and ORM2*6=0.022.     

Ceramide in apoptosis and oxidative stress in allergic inflammation and asthma

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