Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles

BACKGROUND: Current polymerase chain reaction-based strategies for phenotype prediction often fail when sporadic nonfunctional alleles are encountered. The population frequency of such mutations was not known for any gene under low selection pressure and may be best examined in blood groups systems lacking prevalent nonfunctional alleles. The frequency of the very rare Bombay blood group (Oh, genotype hh sese) was recently determined in a systematic survey of more than 600,000 white individuals. STUDY DESIGN AND METHODS: With this survey used in conjunction with additional blood samples, the population frequency of nonfunctional alleles of the gene encoding the alpha (1,2)fucosyltransferase (H or FUT1) was determined. RESULTS: Seven different h alleles were found in five unrelated individuals, three of whom were homozygous for unique alleles. There was no prevalent h allele. Five missense and one frameshift mutations were observed, that were the presumptive causes of the null phenotype; the coding sequence of one h allele was identical to the H sequence. The average inbreeding factor alpha was 0.00116. The frequency of nonfunctional alleles at the H gene locus was calculated as 1 in 347 in a large white population (95% CI: 1:185-1:824). CONCLUSION: The Bombay blood group phenotype in white is due to diverse, sporadic, nonfunctional alleles without any prevalent allele. Assuming similar rates of nonfunctional alleles in glycosyltransferase genes like ABO, current genotyping strategies may fail as often as once in about 300 individuals of blood group O. Sporadic neutral alleles may also pose a serious obstacle for population-wide screening of many disease-associated genes.     

高效液相色谱法测定人血中普鲁卡因酰胺及其代谢产物N-乙酰普鲁卡因酰胺

本文用高效液相色谱法测定人血中普鲁卡因酰胺(PA)及其代谢产物N-乙酰普鲁卡因酰胺(NAPA)。以正丙醇—氯仿(1:9)提取血清样品,蒸干,残渣用流动相溶解;色谱分析条件:NOVA-PAK 5μm ODS柱,醋酸(40 ml)—醋酸钠(4g)—水(1000ml)—乙腈(100ml)为流动相;定量分析以普鲁卡因为内标,样品的比率色谱图表明分离良好,PA和NAPA的线性测定范围分别为0.5～12.0μg/ml和0.5～6.0μg/ml,相关系数均优于0.99,平均回收率分别为99.4%和100.5%,平均变异系数分别为4.16%和4.36%。方法适用于血清样品分析和治疗药物监测,对病人血样的测定结果表明方法不受干扰。     

Evaluation of neutrophil–lymphocyte ratio,platelet–lymphocyte ratio and red blood cell distribution width–platelet ratio as early predictor of acute pancreatitis in pregnancy

Objective: Acute pancreatitis (AP) is a state of inflammation. It has been widely known that neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR) and red blood cell distribution width (RDW) to platelet ratio (RPR) reflect systemic inflammation. The aim of this study is to investigate whether these inflammatory markers could be used as reliable markers in early prediction of AP in pregnancy and if there is a relationship between disease severity and these markers.

Methods: The study group consisted of 14 patients, who developed AP in ongoing pregnancy, and the control group consisted of 30 healthy pregnant women. NLR, PLR and RPR were calculated for both the groups.

Results: NLR was significantly elevated in the AP group when compared with the controls (p?=?0.00), but there was no statistically significant difference in terms of PLR and RPR (p?>?0.05). ROC curve analysis results for NLR showed that there was a significant prediction power of NLR for AP (R²?=?0.842; p?<?0.001). For NLR parameter, if cut-off value is chosen to be 4.1030, then sensitivity is 71.4% and specificity is 100.0%. There was statistically significant and positive correlation between C-reactive protein (CRP) and glucose with NLR (p?=?0.001, p?=?0.043). It was seen that Ranson was close to be significant (p?=?0.051).

Conclusion: NLR might be used as an early marker of AP and may have a role in prediction of disease severity.     

Comparison of oxidative/antioxidative status of penile corpus cavernosum blood and peripheral venous blood

The aim of the study is to determine and to compare the oxidative and antioxidative status of penile corpus cavernosum and peripheral venous blood. A total of 28 adult healthy males were included in the study. Whole blood was simultaneously withdrawn from penile corpus cavernosum and the cubital vein and their plasma separated. Total antioxidant capacity (TAC), vitamin C, total protein, albumin, uric acid, bilirubin and total peroxide (TP) levels of both plasma samples were measured and compared. While TAC, total protein, albumin, bilirubin and uric acid levels were higher, vitamin C levels were lower in cavernosal blood than that of peripheral blood. On the other hand, TP level was found to be higher in penile blood samples than that of peripheral blood. We thought that the normal erectile process of the penile cavernosal body leads to increased production of oxidants as in the mechanism of ischaemia-reperfusion; however, the increase of TAC can prevent development of oxidative injury.     

Structural Requirements in the Fc Region of Rabbit IgG Antibodies Necessary to Induce Cytotoxicity by Human Lymphocytes

Rabbit IgG anti-chicken erythrocyte antibodies were compared with the Fab/c or Facb fragments of IgG and with partially reduced and alkylated IgG for the capacity to induce cytotoxicity by normal human lymphocytes. The Fab/c antibody fragment, which lacks one Fab region, was still able to induce cytotoxicity. In contrast, the Facb antibody fragment, which lacks the Cγ3 domains, was nearly ineffective in activating the effector cells, whereas intact antibody activity was demonstrated by its ability to inhibit the cytotoxicity induced by unsplit IgG. Similarly, partial reduction and alkylation of the IgG antibodies, under conditions affecting the interchain disulphide bonds only, greatly diminished their ability to induce cytotoxicity, although they effectively inhibited the cytotoxicity induced by untreated IgG. On the basis of these results and previous data, we suggest that the reaction of the Fc region of IgG with the effector cell depends on the integrity of the Cγ² domain in the native, divalent state or on the interaction between the Cγ² and Cγ³ domains.     

May platelet count be a predictor of low-risk persistent gestational trophoblastic disease?

Purpose  

The aim of this paper was to determine whether platelet count could be used as an early marker to predict low-risk persistent trophoblastic disease (PTD) from complete hydatidiform mole (CHM).