细胞周期调控基因p21和p27单核苷酸多态性与卵巢上皮性癌的关系

目的 探讨细胞周期调控基因p21和p27的单核苷酸多态性(SNP)与卵巢上皮性癌(卵巢癌)发病风险的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测234例卵巢癌患者(卵巢癌组)和284例健康妇女(对照组)p21基因C/T和p27基因V/G SNP位点基因型和等位基因的频率分布.结果 (1)对照组妇女p21基因的C/C、C/T和T/T基因型频率分别为34.2%、49.6%和16.2%,C和T等位基因频率分别为59.0%和41.0%;卵巢癌组患者3种基因型频率分别为28.2%、53.0%和18.8%,C和T等位基因频率分别为54.7%和45.3%.两组基因型频率和等位基因频率分别比较,差异均无统计学意义(P＞0.05).3种基因型频率在4种病理类型的卵巢癌中的分布有明显差异(P=0.02),C/C基因型降低子宫内膜样癌的发病风险(OR为0.56,95%CI为0.32～0.98).(2)对照组妇女p27基因V/V、V/G和G/G基因型频率分别为88.4%、10.9%租0.7%,V和G等位基因频率分别为93.8%和6.2%;卵巢癌组患者的基因型频率分别为93.6%、5.1%和1.3%,V和G等位基因频率分别为96.2%和3.8%.两组基因型频率分布比较,差异有统计学意义(P=0.04),等位基因频率分布比较,差异则无统计学意义(P=0.09).与V/G和G/G基因型比较,V/V基因型增加卵巢癌的发病风险(OR为1.92,95%CI为1.02～3.63).结论 p21基因C/T多态性的C/C基因型可能降低子宫内膜样癌的发病风险,p27基因的V/V基因型可能是卵巢癌发病的潜在危险因素.     

中国上海及其周边省份汉族人群XRCC3基因Thr241Met多态与脑胶质瘤遗传易感性关联研究

目的:分析上海及其周边省份汉族人群中脑胶质瘤患者X线交叉互补修复基因3(X-ray repair cross-complementing group 3,XRCC3)Thr241Met单核苷酸多态性(single-nucleotide polymorphism,SNP),探讨其与脑胶质瘤遗传易感性的相关性.方法:应用TaqMan技术检测我国上海及其周边省份(江苏、浙江、安徽等)汉族人群中771例脑胶质瘤患者(病例组)和752例非肿瘤对照受试者(对照组)XRCC3基因Thr241Met多态性;应用统计学方法对TaqMan技术成功检测分型结果进行处理,分析该位点多态性与脑胶质瘤遗传易感性的相关性.结果:1 468例受试者(病例组760例,对照组708例)应用TaqMan技术成功进行了目标基因检测及分型,基因分型成功率为96.4%.统计学分析发现:对照组C和T等位基因频率以及TC、TT基因型频率与病例组无显著差异.经年龄和性别因素校正,TC基因型(P=0.909;OR=0.981;95%CI=0.701～1.371)或TT基因型(P=0.642; OR=0.7; 95%CI=0.156～3.146)与CC基因型相比并不增加脑胶质瘤的发生风险.结论:我国上海及其周边省份汉族人群XRCC3基因Thr241Met的变异基因型TC和TT可能不是脑胶质瘤的遗传高危因素.     

炎症性肠病相关基因研究进展

炎症性肠病包括溃疡性结肠炎和克罗恩病,是一组病因未明的非特异性慢性肠道炎症性疾病,近年来发病呈上升趋势。越来越多的研究显示,相关基因的多态性在炎症性肠病的发病中起重要作用。很多文章从遗传学的角度讨论了与IBD有关的几组易感基因,如NOD2基因、白细胞介素相关基因、HLA基因、肿瘤坏死因子基因,以及近期内才被认为和IBD相关的MDR1(ABCB)基因、MY09B基因。     

Hereditary and familial cancer

Advances in both access to and the technology underpinning next-generation sequencing have provided a formidable basis for the evaluation of individuals and families recognized as having a potential hereditary cancer. This article focuses on the most clinically relevant hereditary cancer predisposition syndromes such as hereditary breast and ovarian cancer syndromes and hereditary colorectal cancer. It also reviews current best practice in both surveillance for affected individuals as well as an providing an overview of the available risk-reduction strategies for affected individuals.     

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation VaUlAla is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.     

Thromboembolism risk following recurrent miscarriage

Normal pregnancy is associated with extensive changes in hemostasis such that the procoagulant effect becomes dominant. The evolutionary advantage of this hypercoagulability may be to counteract the inherent instability associated with hemochorial placentation, which is unique to human beings. However, overall, there is a four- to 10-fold increased thrombotic risk throughout gestation and the postpartum period. Certain inherited or acquired thrombophilic factors may predispose to arterial and/or venous thrombosis and have a possible association with pregnancy complications, including recurrent miscarriage (RM), which affects up to 5% of couples with childbearing desire. A subgroup of women with RM has been demonstrated to be in a prothombotic state before and after pregnancy. The long-term health implications of this hypercoagulability may imply an increased risk of ischemic heart disease. Moreover, the presence of antiphospholipid antibodies rather than thrombophilic genetic defects (i.e., factor V Leiden or prothrombin G202010A mutation) in patients with RM is a determinant of thrombotic events later in life, especially among those patients having also cardiovascular risk factors. This article highlights the thromboembolic risk in nonpregnant RM patients in different thrombophilic settings and the need for thromboprophylaxis among these patients.     

The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases

Up to 14,500 young individuals die suddenly every year in Europe of cardiac pathologies. The majority of these tragic events are related to a group of genetic defects that predispose the development of malignant arrhythmias (inherited arrhythmogenic diseases [IADs]). IADs include both cardiomyopathies (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy) and channelopathies (long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia). Every time an IAD is identified in a patient, other individuals in his/her family may be at risk of cardiac events. However; if a timely diagnosis is made, simple preventative measures may be applied. Genetic studies play a pivotal role in the diagnosis of IADs and may help in the management of patients and their relatives.     

白三烯A4水解酶基因多态性与结核性脑膜炎易感性的研究

目的 探讨中国汉族人群中白三烯A4水解酶（LTA4H）基因多态性与结核性脑膜炎的相关性。 方法 应用SNaPshot技术检测48例结核性脑膜炎患者和70名健康对照者LTA4H基因中rs1978331,rs2247570,rs2660898,rs2660845多态位点的等位基因、基因型和单体型分布频率,采用SHEsis软件进行相关统计学分析。 结果 对照组与患者组rs1978331多态性位点C等位基因例数分别为83和40、频率分别为59.3%和41.7%,T等位基因例数分别为57和56、频率分别为40.7%和58.3%,差异有统计学意义（χ²=7.080,P=0.008）;rs1978331位点CC、CT和TT基因型在对照组例和患者组中的例数分别为12、33、25和20、16、12,分布频率分别为17.1%、47.1%、35.7%和41.7%、33.3%、25.0%,差异有统计学意义（χ²=8.670,P=0.013）;rs2660898位点AA、AC和CC基因型在对照组和患者组中的数分别为28、32、10和20、12、16,分布频率分别为40.0%、45.7%、14.3%和41.7%、25.0%、33.3%,差异有统计学意义（χ²=7.980,P=0.019）;对照组与患者组单体型CACT频率分别为26.3%和45.8%,差异有统计学意义（χ²=7.349,P=0.007）。 结论 LTA4H基因中rs1978331基因多态性位点等位基因、rs1978331和rs2660898基因多态性位点基因型、单倍体型CACT与中国汉族人群结核性脑膜炎的易感性存在相关性。     

Aging-like Spontaneous Epigenetic Silencing Facilitates Wnt Activation,Stemness, and BrafV600E-Induced Tumorigenesis

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