学科分类
/ 23
451 个结果
  • 简介:摘要目的探讨血清和肽素、S100B蛋白及尿酸(UA)水平对创伤性脑损伤(TBI)患儿预后的预测价值。方法选择2017年1月1日至2019年12月31日儋州市人民医院收治的86例TBI患儿作为研究对象。收集患儿的性别、年龄、体重指数(BMI)、脑损伤原因及入院时的体温、心率(HR)和呼吸频率(RR)等基线资料,以及入院1、3、5 d血清和肽素、S100B蛋白和尿酸(UA)水平。根据28 d预后分为存活组和死亡组,根据入院时格拉斯哥昏迷评分(GCS)分为中度组(GCS评分9~12分)和重度组(GCS评分3~8分),观察各组患儿入院1、3、5 d血清和肽素、S100B蛋白及UA水平的变化。绘制受试者工作特征曲线(ROC),分析血清和肽素、S100B蛋白及UA预测TBI患儿28 d死亡的价值;采用Pearson相关法分析28 d死亡患儿血清和肽素、S100B蛋白及UA与GCS评分的相关性。结果86例患儿均纳入最终分析,28 d死亡35例,存活51例;中度昏迷28例,重度昏迷58例。不同预后两组患儿基线资料比较差异无统计学意义。死亡组患儿入院1 d血清和肽素、S100B蛋白及UA水平即较存活组明显升高,且随入院时间延长呈升高趋势,5 d时与存活组比较差异仍有统计学意义〔和肽素(μg/L):19.37±6.50比8.06±2.14,S100B蛋白(μg/L):9.52±2.86比3.75±0.97,UA(μmol/L):527.40±273.84比255.38±143.75,均P<0.01〕;重度组患儿血清和肽素、S100B蛋白及UA水平亦随入院时间延长呈升高趋势,且明显高于中度组〔5 d和肽素(μg/L):17.84±4.73比9.15±2.42,5 d S100B蛋白(μg/L):8.80±2.40比4.17±1.16,5 d UA(μmol/L):494.72±262.53比276.20±150.37,均P<0.01〕。ROC曲线分析显示,入院各时间点血清和肽素、S100B蛋白及UA对TBI患儿28 d死亡均有预测价值,以3 d预测价值最大,且3项指标联合预测的ROC曲线下面积(AUC)明显高于单独预测(AUC:0.940比0.852、0.837、0.793,Z值分别为5.392、5.704、6.612,均P<0.05),联合预测的敏感度及特异度分别为96.3%和88.5%。Pearson相关分析显示,28 d死亡TBI患儿入院3 d血清和肽素、S100B蛋白及UA与GCS评分均呈显著负相关(r值分别为-0.862、-0.827、-0.758,均P<0.01)。结论血清和肽素、S100B蛋白及UA水平升高与TBI患儿病情严重程度及预后相关;入院3 d血清和肽素、S100B蛋白及UA联合预测TBI患儿死亡的价值较大。

  • 标签: 创伤性脑损伤 儿童 和肽素 S100B蛋白 尿酸 预后评估
  • 简介:

  • 标签:
  • 简介:AbstractStroke is a devastating disease that occurs when a blood vessel in the brain is either blocked or ruptured, consequently leading to deficits in neurological function. Stroke consistently ranked as one of the top causes of mortality, and with the mean age of incidence decreasing, there is renewed interest to seek novel therapeutic treatments. The Scavenger Receptor Class B type 1 (SR-B1) is a multifunctional protein found on the surface of a variety of cells. Research has found that that SR-B1 primarily functions in an anti-inflammatory and antiatherosclerotic capacity. In this review, we discuss the characteristics of SR-B1 and focus on its potential correlation with the modifiable risk factors of stroke. SR-B1 likely has an impact on stroke through its interaction with smoking, diabetes mellitus, diet, physical inactivity, obesity, hypercholesterolemia, atherosclerosis, coronary heart disease, hypertension, and sickle cell disease, all of which are critical risk factors in the pathogenesis of stroke.

  • 标签: Scavenger Receptor Class B type 1 SR-B1 Atherosclerosis Coronary heart disease Diabetes mellitus Sickle cell Obesity Physical inactivity Hypercholesterolemia Hypertension
  • 简介:摘要目的探讨甲状腺癌及腺瘤组织中钙结合蛋白S100A6(S100A6)和高迁移率族蛋白B1(HMGB1)的表达,以及两者与甲状腺癌临床病理特征的关系。方法收集吉林省肿瘤医院2012年1月至2019年12月手术治疗甲状腺肿瘤患者的组织标本102例,包括甲状腺瘤22例、甲状腺癌组织80例,另选择正常甲状腺组织16例作为对照组;采用免疫组织化学法检测各组织中S100A6和HMGB1的表达水平,并结合临床资料采用χ2检验。结果S100A6在正常甲状腺组织、甲状腺瘤组织和甲状腺癌组织中的阳性表达率分别为18.75%(3/16)、54.55%(12/22)和83.75%(67/80),两两之间比较差异有统计学意义(分别为t=8.427、28.526、4.968,P<0.05),S100A6表达水平与甲状腺癌美国肿瘤联合委员会(AJCC)分期、组织分化程度、颈部淋巴结转移和包膜浸润明显相关(分别为t=4.670、8.158、5.884、5.088,P<0.05);HMGB1在正常甲状腺组织、甲状腺瘤组织和甲状腺癌组织中的阳性表达率分别为6.67%(1/16)、37.50%(9/22)和61.45%(51/80),两两之间比较差异有统计学意义(分别为t=7.664、21.429、4.647,P<0.05),HMGB1表达水平与甲状腺癌AJCC分期、颈部淋巴结转移、包膜浸润明显相关(分别为t=5.093、7.172、5.770,P<0.05)。结论S100A6和HMGB1在甲状腺癌组织中的阳性表达率明显升高,是甲状腺癌的不良预后因素。

  • 标签: 甲状腺癌 免疫组织化学法 钙结合蛋白S100A6 高迁移率族蛋白B1
  • 作者: Fan Shang-Rong Tasneem Umber Liu Xiao-Ping Yan Shao-Mei
  • 学科: 医药卫生 >
  • 创建时间:2020-08-10
  • 出处:《母胎医学杂志(英文)》 2020年第02期
  • 机构:Department of Obstetrics and Gynecology, Peking University Shenzhen Hospital, Shenzhen 518036, China; Shenzhen Key Laboratory on Technology for Early Diagnosis of Major Gynecological Diseases, Shenzhen 518036, China,Department of Microbiology, Kohat University of Science and Technology, Khyber Pakhtunkhwa 26000, Pakistan,Department of Laboratory Science, Peking University Shenzhen Hospital, Shenzhen 518036, China,Clinical College of Guilin Medical University, Guangxi Zhuang Autonomous Region 541001, China
  • 简介:AbstractGroup B streptococcus (GBS) is a leading cause of neonatal infection. Maternal vaginal-rectal colonization with GBS during the intrapartum period is a prerequisite for GBS early-onset disease (EOD). The obstetric measures for effective prevention of GBS EOD include universal prenatal screening by vaginal-rectal culture, correct specimen collection and processing, appropriate implementation of intrapartum antibiotic prophylaxis, and coordination with pediatric care providers. It is now recommended to universal screen GBS between 360/7 and 376/7 weeks of gestation and to identify groups of women who are eligible for intravenous intrapartum antibiotic prophylaxis as a means of preventing GBS EOD.

  • 标签: Streptococcal infections Pregnancy Screening Intrapartum antibiotic prophylaxis
  • 简介:AbstractThe main treatments for Parkinson’s disease (PD) currently include surgery, rehabilitation, and most commonly, drug therapy. However, the drugs that are currently used to treat PD provide only symptomatic relief and delayed disease progression but have no curative effect and cause many adverse reactions. When considering pathogenic factors and metabolic regulation, PD and type 2 diabetes have a high rate of comorbidity; this provides a theoretical basis for the treatment of PD with first-line antidiabetic drugs. Among these agents, metformin reduces neuronal damage in the brains of PD patients via neuroprotection and the inhibition of oxidative stress and inflammatory responses, thus providing a novel strategy for the clinical treatment of PD. Here, we present the current state of knowledge about the use of metformin to treat PD and discuss its clinical prospects.

  • 标签: adenosine monophosphate-activated protein kinase metformin Parkinson’s disease signal pathway type 2 diabetes
  • 简介:摘要微小RNA-125b(miR-125b)近年来被证明与多种肿瘤疾病关系密切,如肺癌、消化系统肿瘤、血液系统肿瘤等。miR-125b在肿瘤疾病的发生发展中起关键性作用,检测miR-125b的表达量可以评估各种肿瘤疾病治疗方式的疗效,并能辅助诊断肿瘤。探索miR-125b在肿瘤疾病中的机制对肿瘤治疗具有重大意义。

  • 标签: 微RNAs 肿瘤 诊断 预后 miR-125b
  • 简介:摘要目的探讨β2-微球蛋白(β2-MG)、S100B钙结合蛋白(S100B)在颅脑损伤术后脑脊液中的表达与交通性脑积水发生关系。方法选择2016年5月至2019年6月宁波市第七医院、波市镇海龙赛医院、浙江大学医学院附属第二医院收治的298例颅脑损伤患者为病例组,同期在我院体检健康者100例为对照组,比较对照组与病例组脑脊液中β2-MG、S100B水平,根据298例颅脑损伤患者术后是否发生交通性脑积水分为非交通性脑积水组(n=247)与交通性脑积水组(n=51),比较非交通性脑积水组与交通性脑积水组脑脊液中β2-MG、S100B水平,采用Spearman相关分析颅脑损伤患者术后脑脊液中β2-MG、S100B水平与交通性脑积水的相关性,采用受试者工作特征曲线(ROC)分析颅脑损伤患者术后脑脊液中β2-MG、S100B水平对交通性脑积水的预测价值。采用χ2检验及t检验。结果交通性脑积水组脑脊液中β2-MG、S100B水平显著高于非交通性脑积水组(P<0.05);颅脑损伤患者术后脑脊液中β2-MG、S100B水平与交通性脑积水呈正相关(P<0.05);颅脑损伤患者术后脑脊液中β2-MG、S100B联合预测交通性脑积水的曲线下面积(AUC)、敏感性、特异性、准确性依次为0.925、77.90%、96.00%、91.65%。结论β2-MG、S100B在颅脑损伤术后脑脊液中呈高表达,β2-MG、S100B在颅脑损伤术后脑脊液中高表达与交通性脑积水发生有相关,颅脑损伤患者术后脑脊液中β2-MG>2.04 mg/L且S100B>0.41 μg/L对交通性脑积水有较高的预测价值。

  • 标签: 颅脑损伤 交通性脑积水 脑脊液 β2-微球蛋白 S100B钙结合蛋白 表达水平 相关性
  • 简介:AbstractObjective:To review indications and techniques for the endoscopic endonasal approach to the craniovertebral junction (CVJ), analyze postoperative outcomes, and discuss important technical considerations.Methods:A retrospective analysis was performed on all patients undergoing endonasal endoscopic approaches to the CVJ from May 2007 to June 2017. Demographic information, presenting symptoms, imaging results, treatment course, postoperative functional status, and follow-up were recorded.Results:There was a total of 30 patients in this series, with a mean follow-up of 11.7 months. The average age was 33.6 years (range, 5-75 years), with 18 females and 12 males. The majority of patients (n = 22, 73.3%) had Chiari malformation type 1 with basilar invagination and symptomatic cervicomedullary compression as the indication for surgery. Intraoperative cerebrospinal fluid leak (CSF) was noted in 3 cases of odontoid resection and a single case of skull base resection. There were no postoperative CSF leaks. Overall, 81% of patients resumed regular diet by post-operative day 2 (range, 0-8 days). Severe postoperative dysphagia occurred in two cases with one requiring gastrostomy tube placement and another utilizing total parenteral nutrition for support prior to eventual gastrostomy. On average, patients were extubated by postoperative day 0.93 (range 0-3 days), with 85% extubated by postoperative day 1. A tracheotomy was required in one patient.Conclusion:The endonasal endoscopic approach is a valuable technique for access to the CVJ with minimal disruption of respiratory and alimentary function.

  • 标签: Odontoidectomy Craniovertebral junction Endoscopic skull base surgery
  • 简介:

  • 标签:
  • 简介:AbstractPeyronie’s disease (PD) is a benign, progressive fibrotic disorder characterized by scar or plaques within the tunica albuginea (TA) of the penis. This study provides new insights into the pathogenesis of PD based on data from different studies regarding the roles of cytokines, cell signaling pathways, biochemical mechanisms, genetic factors responsible for fibrogenesis. A growing body of literature has shown that PD is a chronically impaired, localized, wound healing process within the TA and the Smith space. It is caused by the influence of different pathological stimuli, most often the effects of mechanical stress during sexual intercourse in genetically sensitive individuals with unusual anatomical TA features, imbalanced matrix metalloproteinase/tissue inhibitor of metalloproteinase (MMP/TIMP), and suppressed antioxidant systems during chronic inflammation. Other intracellular signal cascades are activated during fibrosis along with low expression levels of their negative regulators and transforming growth factor-β1 signaling. The development of multikinase agents with minimal side effects that can block several signal cell pathways would significantly improve fibrosis in PD tissues by acting on common downstream mediators.

  • 标签: Peyronie’s disease Cell signal pathway Penile curvature Myofibroblast Extracellular matrix
  • 简介:

  • 标签:
  • 简介:摘要目的分析非小细胞肺癌(NSCLC)患者人S100钙结合蛋白A8/钙粒蛋白A(S100A8)、S100A9、基质金属蛋白酶9(MMP-9)的表达及意义。方法将2017年1月至2020年1月于四川省眉山市人民医院就诊的16例NSCLC患者纳入NSCLC组进行回顾性研究,将同期20例肺部良性疾病患者作为良性组,另选同期20名健康受试者作为对照组。通过酶联免疫吸附法法测定3组血清S100A8、S100A9、MMP-9水平,经受试者工作特征曲线分析3项指标对NSCLC的诊断价值,并分析其与NSCLC病理特征的关系。结果NSCLC组血清S100A8、S100A9及MMP-9水平均>良性组>健康组,差异均有统计学意义(P值均<0.05);绘制受试者工作特征曲线结果显示,血清S100A8、S100A9预测NSCLC的曲线下面积(AUC)分别为0.953、0.977,诊断价值高;血清MMP-9预测NSCLC的AUC为0.846,诊断价值中等;经Spearman等级相关分析法发现,S100A8、S100A9、MMP-9表达均与组织分化程度呈负相关(P值均<0.05),与TNM分期呈正相关(P值均<0.05);且MMP-9表达与有无淋巴转移相关(r=0.811,P<0.05)。结论NSCLC患者血清中S100A8、S100A9及MMP-9水平均呈高表达,且与组织分化程度、TNM分期等病理特征密切相关,可作为诊断NSCLC及评估预后的潜在分子标志物。

  • 标签: 癌,非小细胞肺 钙结合蛋白 S100钙结合蛋白A8/钙粒蛋白A S100钙结合蛋白A9/钙粒蛋白A 基质金属蛋白酶9
  • 简介:AbstractIntroduction:Erosive adenomatosis of the nipple is a rare benign lesion involving nipple which can be easily misdiagnosed as more ominous entities such as Pagets disease.Here we reported a case of erosive adenomatosis on the nipple masquerading as paget’s disease.Case presentation:A 21-year-old woman presented with a 6-year history of breast erythema involving her left nipple with tenderness and mild itching. The nipple appeared rough and thickened with areas of erosion and fissuring. Physical examination of other areas of breast as well as imaging studies including ultrasound and mammography showed no abnormalities. The histological examination reveal adiagnosis of erosive adenomatosis of nipple (EAN). The patient was treated by a simple surgical excision without complications and recurrence during 9-month follow-up.Discussion:In the early stage, it can mimic eczema, but in the later stage, more serious diagnosis such as Pagets disease should be differential. It is diagnosed by histopathological examination. Surgical excision is an optimal choice for treament with or without plastic reconstruction.Conclusion:EAN should be considered in the diagnosis of erythema and erosion lesions involving nipple. The gold standard for diagnosis is histopathological examination. A prompt and correct diagnosis of EAN can avoid both unnecessary over treatment and patients emotional stress.

  • 标签: erosive adenomatosis of nipple nipple adenoma Paget’s disease
  • 简介:摘要目的探讨S100A8和S100A9在H.pylori相关胃炎中的表达及其临床意义。方法选择2018年10月至2019年5月在山西医科大学第一医院确诊的慢性胃炎患者101例。采用免疫组织化学法检测101例慢性胃炎患者胃黏膜组织中S100A8和S100A9的表达(以吸光度表示),同时采用RT-PCR法检测其中48例患者胃黏膜组织S100A8和S100A9的mRNA表达,并结合H-E染色病理诊断和临床H.pylori感染资料进行分析。统计学方法采用Mann-Whitney U检验、Kruskal-Wallis H检验和Spearman秩相关。结果101例患者中,慢性萎缩性胃炎(CAG)59例(CAG组),慢性非萎缩性胃炎(NAG)42例(NAG组);H.pylori阳性59例(H.pylori阳性组),H.pylori阴性42例(H.pylori阴性组)。CAG组S100A8和S100A9的表达水平与NAG组比较[分别为0.10(0.07,0.13)比0.09(0.06,0.10)和0.13(0.08,0.15)比0.09(0.07,0.10)],以及H.pylori阳性组S100A8和S100A9的表达水平与H.pylori阴性组比较[分别为0.11(0.10,0.13)比0.07(0.06,0.08)和0.13(0.10,0.15)比0.07(0.07,0.08)],差异均有统计学意义(U=754.00、602.00、5.00、40.00,P均<0.01)。CAG组中H.pylori阳性患者(34例)S100A8和S100A9的表达水平与阴性患者(25例)比较[分别为0.13(0.11,0.14)比0.07(0.07,0.08)和0.15(0.14,0.16)比0.08(0.08,0.09)],以及NAG组中H.pylori阳性患者(25例)的S100A8和S100A9的表达水平与阴性患者(17例)比较[分别为0.10(0.09,0.10)比0.06(0.05,0.07)和0.10(0.10,0.11)比0.07(0.06,0.07)] ,差异均有统计学意义(U=1.00、0.00、0.00、0.00,P均<0.01)。CAG合并H.pylori感染者的S100A8和S100A9的表达水平最高,NAG无H.pylori感染者的S100A8和S100A9表达水平最低,差异均有统计学意义(H=84.78、89.64,P均<0.01)。CAG患者(24例)S100A8和S100A9的mRNA表达水平与NAG患者(24例)比较[分别为0.12(0.06,1.31)比0.05(0.03,0.08)和0.19(0.03,0.43)比0.03(0.01,0.09)],以及H.pylori阳性患者(24例)S100A8和S100A9的mRNA表达水平与阴性患者(24例)比较[分别为0.45(0.10,1.90)比0.05(0.03,0.08)和0.36(0.24,0.81)比0.03(0.01,0.04)],差异均有统计学意义(U=55.00、74.00、19.00、2.00,P均<0.05)。CAG合并H.pylori阳性患者(12例)S100A8和S100A9的mRNA表达水平与阴性患者(12例)比较[分别为0.85(0.27,2.28)比0.06(0.03,0.09)和0.39(0.25,0.87)比0.03(0.02,0.05)],以及NAG合并H.pylori阳性患者(12例)S100A8和S100A9的mRNA表达水平与阴性患者(12例)比较[分别为0.09(0.05,0.28)比0.04(0.03,0.07)和0.20(0.09,0.65)比0.01(0.01,0.03),差异均有统计学意义(U=5.00、2.00、0.00、0.00,P均<0.01)。CAG合并H.pylori感染者S100A8和S100A9的mRNA表达水平最高,NAG无H.pylori感染者的S100A8和S100A9的mRNA表达水平最低,差异均有统计学意义(H=20.43、24.15,P均<0.01)。S100A8和S100A9无论在蛋白质水平还是在mRNA水平的表达均呈正相关(r=0.899和0.903,P均<0.01)。结论S100A8和S100A9可能参与H.pylori感染胃黏膜的致炎过程并促使胃黏膜上皮细胞增殖紊乱的发生,是H.pylori导致胃黏膜固有腺体减少和CAG发生的可能机制之一。S100A8和S100A9有望作为CAG诊断、随访生物标志物和治疗的潜在靶点。

  • 标签: 幽门螺杆菌 胃炎,萎缩性 S100A8 S100A9
  • 作者: 郜洪宇 黄宝鑫 侯建霞 孟焕新
  • 学科: 医药卫生 >
  • 创建时间:2020-08-10
  • 出处:《中华口腔医学杂志》 2020年第06期
  • 机构:北京大学口腔医学院·口腔医院牙周科 国家口腔疾病临床医学研究中心 口腔数字化医疗技术和材料国家工程实验室 口腔数字医学北京市重点实验室 100081(现在天津医科大学口腔医院牙周科 300070) ,北京大学口腔医学院·口腔医院牙周科 国家口腔疾病临床医学研究中心 口腔数字化医疗技术和材料国家工程实验室 口腔数字医学北京市重点实验室 100081(现在中山大学光华口腔医学院·附属口腔医院种植科·广东省口腔医学重点实验室,广州 510055) ,北京大学口腔医学院·口腔医院牙周科 国家口腔疾病临床医学研究中心 口腔数字化医疗技术和材料国家工程实验室 口腔数字医学北京市重点实验室 100081
  • 简介:摘要目的观察S100A8、S100A9蛋白在比格犬健康及实验性牙周炎组织中的表达分布特点。方法将6只比格犬的一侧下颌第二磨牙通过拴线法诱导实验性牙周炎模型(结扎组),另一侧下颌第二磨牙保持口腔卫生(健康对照组),应用免疫组化法检测S100A8、S100A9在6只比格犬健康及实验性牙周炎组织中的表达;免疫细胞化学法检测两种蛋白亚基在人牙龈成纤维细胞(human gingival fibroblasts,hGF)(来自3例牙冠延长术切除的牙龈组织)、人牙周膜细胞(human periodontal ligament cells,hPDLC)(来自3例因正畸拔除的前磨牙或第三磨牙的牙周膜细胞)中的表达。结果实验性牙周炎诱导第12周,结扎组探诊深度[(3.86±0.14)mm]显著高于健康对照组[(2.11±0.28)mm,P<0.01];比格犬健康牙周组织中S100A8、S100A9主要表达于牙龈上皮细胞、中性粒细胞,且在结合上皮处呈强阳性表达;实验性牙周炎组织中除牙龈上皮、中性粒细胞外,两种蛋白还诱导表达于牙龈成纤维细胞、牙周膜细胞、微血管内皮细胞及骨髓成纤维细胞;hGF及hPDLC中均可检测到S100A8、S100A9的表达。结论实验性牙周炎使S100A8、S100A9的表达范围更大,表达S100A8、S100A9的细胞类型更多。

  • 标签: 牙周炎 S100A8 S100A9 牙龈成纤维细胞 牙周膜细胞
  • 简介:摘要目的探讨脑脊液白细胞介素-6(IL-6)、神经元特异性烯醇化酶(NSE)和S100B蛋白在中枢神经系统感染中的诊断价值。方法回顾性分析2015年10月至2019年2月徐州医科大学附属医院神经内科78例中枢神经系统感染患者(感染组)的临床资料,其中病毒性脑膜炎(病脑)41例,结核性脑膜炎(结脑)23例,化脓性脑膜炎(化脑)14例。另选取同期入院行脑脊液等相关检查且排除中枢神经系统感染的患者100例(对照组)。采用酶联免疫吸附试验法检测患者脑脊液IL-6、NSE和S100B蛋白水平。结果感染组脑脊液IL-6、NSE和S100B蛋白水平均高于对照组[16.70(8.54,228.18)ng/L比6.64(4.96,8.21)ng/L、13.62(11.50,19.01)μg/L比9.95(7.54,12.39)μg/L和3.07(0.24,11.57)μg/L比0.16(0.12,0.21)μg/L],差异有统计学意义(P<0.05)。结脑患者IL-6、NSE和S100B蛋白水平明显高于病脑患者和化脑患者[173.30(13.74,503.80)ng/L比9.37(4.80,113.55)和89.96(14.02,239.60)ng/L、(30.82 ± 14.09)μg/L比(12.00 ± 2.33)和(17.62 ± 5.63)μg/L、(18.29 ± 16.05)μg/L比(2.12 ± 1.24)和(5.79 ± 4.82)μg/L],化脑患者明显高于病脑患者,差异有统计学意义(P<0.05)。结论脑脊液IL-6、NSE和S100B蛋白在不同类型中枢神经系统感染患者中表达存在差异,且对中枢神经系统感染的诊断具有一定临床应用价值。

  • 标签: 中枢神经系统感染 脑膜炎,病毒性 结核,脑膜 脑膜炎,细菌性 白细胞介素-6 磷酸丙酮酸水合酶 S100B蛋白
  • 简介:摘要目的探讨ABO亚型B(A)的血型鉴定方法及其分子机制。方法选择2015年7月,于山东省泰安市中心医院因ABO血型正反定型不符,拟行进一步血型鉴定的1例患者为先证者;以先证者、先证者丈夫及其2个儿子为研究对象。本例先证者为女性,45岁。采用常规血清学方法鉴定受试者的ABO血型。采用序列特异性引物(SSP)-PCR法对受试者ABO基因第6、7外显子进行直接测序,并且根据测序结果确定其ABO基因型。本研究遵循的程序符合山东省泰安市中心医院人体试验委员会制定的标准,经过该伦理委员会批准(批准文号:2015-018),并与所有受试者签署临床研究知情同意书。结果① ABO血型正反定型检测结果显示,先证者及其长子ABO血型为B(A)亚型,先证者丈夫和次子为O型。吸收放散试验结果显示,先证者与其长子血清标本中检测出A抗原,其丈夫与次子未检测出A抗原。② ABO基因测序结果显示,先证者及其长子均检出O02等位基因,ABO基因第7外显子存在c.640A>G突变,符合B(A)04等位基因的特征,其基因型均为B(A)04/O02;先证者丈夫和次子基因型为O01/O02。先证者长子的B(A)04等位基因来源于先证者,B(A)04等位基因的遗传方式为顺式遗传。结论分子生物学方法是鉴定罕见ABO亚型的必要方法。ABO基因第7外显子c.640A>G突变是形成B(A)04等位基因的分子遗传学基础之一。

  • 标签: ABO血型系统 基因型 DNA突变分析 测序 B(A)亚型
  • 简介:

  • 标签: