p53PIN3基因多态性与膀胱移行细胞癌发病风险关系的研究

目的:探讨p53第3内含子16bp插入/缺失多态性与膀胱移行细胞癌发病风险的关系。方法:采用序列特异性引物,以PCR方法检测90例膀胱移行细胞癌患者和110例健康对照个体外周血DNA p53基因第3内含子的基因型。结果:膀胱癌组与对照组p53基因第3内含子16bp插入或缺失序列(PIN3)的A、A′等位基因频率分别83.33%、11.67%及96.36%、3.64%,两组比较差异有统计学意义(P<0.05);两组中三种基因型频率分别为76.67%、23.33%、0和92.73%、7.27%、0,分布差异有统计学意义(P<0.05)。膀胱移行细胞癌按临床分期比较:浅表性癌、浸润性癌突变与野生基因型差异有统计学意义(P<0.05);按病理分级比较:G1～G2、G3突变与野生基因型差异有统计学意义(P<0.05);按性别和年龄分组:两组突变与野生基因型频率比较差异均无统计学意义(P>0.05)。结论:p53第3内含子16bp插入/缺失多态性与膀胱癌发病风险存在相关性,可能是膀胱移行细胞癌患病的易感基因。     

MTRR A66G基因多态性与深静脉血栓形成的关系

目的探讨蛋氨酸合成酶还原酶(MTRR)基因的多态性与深静脉血栓形成的关系。方法采用病例对照的研究方法,以101例下肢深静脉血栓形成(DVT)患者与同期行健康体检的正常人群120例(对照组)的血白细胞为样本,应用等位基因序列特异性引物聚合酶链反应(PCR-SSP)多态性技术检测两组MTRR基因第66位点的多态性,分别比较每两组的基因型和等位基因的分布频率。结果 MTRR的66位点AA,AG和GG基因型频率在DVT组中分别为26.76%,43.66%和29.58%,在对照组中分别为43.57%,44.28%和12.14%,两组的分布频率差异无统计学意义(χ2=3.22,P0.05)。结论 MTRR基因A66G多态性在我国可能不是DVT的独立遗传危险因素。     

低分子肝素预防人工全髋关节置换术后深静脉血栓疗效观察

目的探讨人工全髋关节置换(total hip arthroplasty,THA)术后深静脉血栓(deep vein thrombosis,DVT)发病规律,以及低分子肝素(low molecular weight heparin,LMWH)的预防效果。方法回顾性分析2003年2月-2004年3月90例THA术后预防性应用LMWH患者发生DVT的情况,其中应用LMWH剂量为5000U/d者39例(高剂量组)、2500U/d者51例(低剂量组);并与2002年2月-2003年2月90例THA术后未应用LMWH患者(对照组)进行比较。各组患者性别、年龄、病因、病程、假体类型等比较,差异均无统计学意义(P0.05),具有可比性。结果术后1个月内对照组19例(21.1%)、高剂量组2例(5.1%)、低剂量组5例(9.8%)发生DVT,对照组与后两组比较差异均有统计学意义(P0.05);高、低剂量组间比较差异无统计学意义(P0.05)。各组内男女患者、年龄65岁及≤65岁者、创伤及骨病患者DVT发生率比较,以及以上因素组间同一类型患者比较,差异均无统计学意义(P0.05)。各组骨水泥型患者DVT发生率均高于非骨水泥型患者(P0.05);组间同一类型患者比较,差异均无统计学意义(P0.05)。高剂量组、低剂量组及对照组术后出血量分别为(463.5±234.2)、(342.4±231.6)(288.2±141.6)mL;高、低剂量组之间、低剂量组与对照组比较,差异均无统计学意义(P0.05);而高剂量组与对照组间差异有统计学意义(P0.05)。结论骨水泥型THA术后患者DVT发生率提高;LMWH可显著降低其发生率,且具有良好的安全性。     

浙江地区无精子症和少弱精子症患者DAZL基因A260G和A386G单核苷酸多态性分析

目的:探讨浙江地区人群中DAZL基因A260G和A386G单核苷酸多态性(SNP)与无精子症和少弱精子症的关系。方法:收集浙江地区无精子症和少弱精子症患者317例和正常生育男性246例外周血标本,利用SNa Pshot SNP分型技术对样本DAZL基因Q260G和A386G多态性位点进行分型。结果:DAZL基因A260G在浙江地区汉族人群中具有多态性,其基因频率与基因型频率分布在病例组和对照组中均符合Hardy-Weinberg平衡。AA、AG和GG的基因型频率在对照组中分别为92.3%、7.3%和0.4%,而病例组中分别为94.3%、5.7%和0%,统计学分析无显著性差异(P=0.430,OR=0.780,95%CI=0.413~1.46)。A386G突变只在正常对照组中出现1例杂合子AG,两组中都没有发现纯合子GG突变,两组之间亦无显著性差异(P=0.259,OR=0.698,59%CI:0.374~1.306)。结论:DAZL基因Q260G和A386G多态性与中国浙江地区无精子症和少弱精子症无相关性,两者都不能作为无精子症和少弱精子症遗传诊断的分子标志。     

汉族人维生素D受体基因TruⅠ和FokⅠ多态性与腰椎间盘退变的关系

[目的]探讨汉族人维生素D受体(vitamin D receptor,VDR)基因多态性与腰椎间盘退变(lumbar disc degeneration,LDD)的关系.[方法]收集182例汉族人静脉血标本和腰椎MRI,其中对照组101例,病例组81例.用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polymorphism,PCR-RFLP)法测定2组标本的VDR基因TruⅠ和FokⅠ酶切位点多态性;根据MRI显示的信号差异按Schneiderman分级法确定各个体腰椎间盘的退变程度,分无、轻、中、重4组.分析病例对照组中基因型、等位基因频率的分布规律,分析其中小于45岁(包括45岁)者基因型及基因频率分布与椎间盘退变程度的关系.[结果]对照组中FokⅠ和TruⅠ的等位基因频率分布为F 59.4%,f 40.6%和T 79.2%,t 20.8%;病例组中FokⅠ和TruⅠ等位基因频率的分布为F 53.7%,f 46.3%和T 80.9%,t 19.1%,二组中的分布差别无统计学意义,P＞0.05;在MRI分组中VDR基因TruⅠ和FokⅠ酶切位点的基因型和等位基因频率在组中分布差异也无显著性,P＞0.05.[结论]VDR基因TruⅠ和FokⅠ酶切位点多态性和汉族人LDD无关.     

人组织因子途径抑制因子基因转染对移植静脉新生内膜的影响

目的 为减少冠状动脉旁路移植术后移植静脉再狭窄,探讨人组织因子途径抑制因子(tissue factor pathway inhibitor,TFPI)基因转染对移植静脉内膜增生的影响. 方法 构建真核表达质粒pCMV-(Kozak)TFPI.将48只日本大耳白兔随机分为3组,每组16只,即TFPI转染组、空载体对照组和空白对照组.建立颈总动脉旁路移植模型.吻合前,TFPI转染组移植静脉内采用阳离子脂质体pCMV-(Kozak)TFPI(400μg)和腔内加压灌注法(30 min)转染,空载体对照组以空质粒pCMV(400 μg)代替pCMV-(Kozak)TFPI,空白对照组不予干预.术后3 d,用RT-PCR、Westernblot和免疫组织化学法检测外源基因在移植静脉中的表达.术后30 d,血管多普勒测最移植静脉管腔内径和管壁厚度;组织病理标本测量内膜面积和中膜面积,并计算其比值;透射电镜观察移植静脉新生内膜的细胞构成. 结果 TFPI转染组移植静脉中有人TFPI基因mRNA和蛋白表达,两对照组未见表达.TFPI转染组移植静脉管腔内径为(2.68±0.32)mm,大于空载体对照组(2.41±0.23)mm和空白对照组(2.38±0.21)mm,差异均有统计学意义(P＜0.05).TFPI转染组管壁厚度为(1.09±0.11)mm,小于空载体对照组(1.28±0.16)mm和空白对照组(1.34±0.14)mm,差异均有统计学意义(P＜0.01).TFPI转染组移植静脉内膜面积和内膜、中膜面积比值分别为(0.62±0.05)mm2及0.51±0.08,均小于两对照组的(0.70±0.05)mm2、0.58±0.06及(0.72±0.04)mm2、0.59±0.08(P＜0.05);中膜面积各组差异无统计学意义(P＞0.05).透射电镜观察,TFPI转染组移植静脉内膜未见甲滑肌细胞,两对照组均见甲滑肌细胞. 结论 人TFPI基凶转染减少移植静脉内膜增生.     

老年髋关节周围骨折围手术期应用低分子肝素预防下肢深静脉血栓的研究

目的探讨应用低分子肝素围手术期预防髋关节周围骨折下肢深静脉血栓(DVT)发生的有效性和安全性。方法选取髋关节周围骨折患者70例,随机分为两组,对照组行物理方法预防;实验组行物理方法加低分子肝素预防。比较两组DVT和并发症发生率。结果对照组术前7例DVT形成,发生率为18.42%,试验组发生率为0%,差异有统计学意义(P0.05);对照组31例中术后8例DVT形成,实验组32例中术后2例发生DVT;差异有统计学意义(P0.05)。无一例发生出血。结论应用低分子肝素能有效预防髋部骨折患者围手术期DVT的发生。     

骨肉瘤与肿瘤坏死因子基因多态性相关性研究

目的 观察骨肉瘤患者肿瘤坏死因子 (TNF)基因多态性,探讨骨肉瘤与TNF基因多态性的相关性.方法 应用聚合酶链反应-限制性片段长度多态性分析方法(PCR-RFLP) 对52例骨肉瘤患者与60例健康对照者TNF-α和TNFβ基因的NcoI酶切位点进行对比分析.结果 52例骨肉瘤患者TNF-α- 308位点G/G基因型频率(98%) 及G等位基因频率(99%) 显著高于正常对照组G/G基因型频率85.0%及G等位基因频率91.7%(P<0.05),TNF-β+252的基因型频率和等位基因频率与正常对照人群比较差异无统计学意义(P>0.05). 结论 TNFα基因多态性与骨肉瘤的发生具有相关性,TNFβ基因多态性与骨肉瘤的发生无明显相关.     

脊柱结核患者TNF-α基因多态性研究

目的探讨肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)基因启动子区-238A/G、-308A/G位点的基因多态性与脊柱结核的关系。方法随机抽取新疆医科大学第六附属医院2015年1月至12月收治的脊柱结核患者58例及对照组50例作为研究对象,采取病例-对照方法对两组TNF-α-238A/G、-308A/G位点的基因多态性进行比较,并使用统计学方法进行分析。结果病例组与对照组TNF-α-238位点GG、GA基因型频率比较差异有统计学意义,P0.05;两组-238位点G、A等位基因型频率比较差异无统计学意义,P0.05;两组TNF-α-308位点GG、GA基因型频率比较差异无统计学意义,P0.05;两组-308位点G、A等位基因频率比较差异均有统计学意义,P0.05。结论 TNF-α基因参与了脊柱结核的发生发展过程,且基因多态性和和结核易感性有关,其中-308A等位基因和-238位点GA基因可能参与了脊柱结核的发生。     

Klotho基因多态性与老年人低骨量的相关性研究

目的 研究klotho基因G395A、F352V位点与新疆维、汉两民族老年人（>60岁）低骨量的相关性,探讨该基因多态性在维、汉两民族中的分布差异。方法 收集人住新疆医科大学第一附属医院干部病房的维、汉老年患者324例,其中低骨量病例组（骨量减低组+骨质疏松组）164例,对照组（骨量正常值）160例。采用多重SNaPshot SNP ( Single nucleotide polymorphisms)分型技术对klotho基因G395A、F352V位点进行基因分型。结果（1) Klotho基因多态性在病例组与对照组间整体比较,差异无统计学意义（P >0.05)。(2)在维、汉两民族间整体比较,G395A多态性的分布差异无统计学意义（P >0.05）,维吾尔族人群F352V多态性基因型TT及等位基因T分布频率均低于汉族,差异具有统计学意义(P < 0. 05);汉族人群 TG、GG基因型及等位基因G频率均低于维吾尔族,差异具有统计学意义(P <0. 05)。(3)在男、女性别间比较,G395A、F352V 多态性分布差异均未见有统计学意义(P >0. 05)。结论 Klotho基因G395A、F352V位点多态性可能不是新疆地区维、汉老年人群低骨量发生的危险因子,F352V多态性在维、汉不同民族中的分布具有差异性。     

先天性脊柱侧凸发状分裂相关增强子-7基因外显子突变的筛查

目的:探讨汉族人群中发状分裂相关增强子-7(hairy-and-enhancer-of-split-7,HES7)基因外显子(exon)突变与先天性脊柱侧凸(congenital scoliosis,CS)发病的关系。方法:2009年6月～2010年12月在我院行手术治疗且有完整影像学资料的汉族散发非综合征型CS患者60例(病例组),其中男23例,女37例,年龄12.9±4.4岁;对照组为80例正常汉族人,其中男32例,女48例,年龄13.7±3.2岁。从每例受检者外周血中提取基因组DNA,设计引物扩增HES7基因exon(共4个:exon 1～4)序列,目的产物纯化后DNA自动测序,应用DNAstar软件的MegAlign将两组测序结果进行对比,并与美国NCBI基因库所公布的HES7基因exon序列进行比对分析,比较两组exon突变情况。结果:病例组和对照组HES7基因exon 1和exon 4序列均与基因库HES7基因exon序列一致;exon 2第81位点在两组中均存在G/A多态性,但基因多态性分布频率无显著性差异(P=0.727);exon 3第37位点在两组中均存在T/C多态性,但基因多态性分布频率也无显著性差异(P=1.000)。结论:中国汉族散发非综合征型CS患者HES7基因exon无突变,在中国汉族人群中HES7基因exon突变与散发非综合征型CS的发病可能无关。     

DAZL基因单核苷酸多态性与弱畸精子症的相关性研究

目的:探讨DAZL基因(deleted in azoospermia like)单核苷酸多态性(SNP)与弱精子症伴畸形精子症男性不育的关系。方法:收集弱畸精子症不育患者(病例组,n=173)和精液正常男性(对照组,n=175)精液样本,进行精液常规及精子形态学分析并提取精子基因组DNA,应用Sequenom MassARRAY SNP分型技术对DAZL基因A260G和A386G多态性位点进行基因分型,比较病例组与对照组基因型的分布差异。结果:在病例组与对照组中,DAZL基因A260G、A386G这两个位点均表现为野生基因型,无突变基因型。结论:DAZL基因A260G和A386G两个多态性位点与汉族男性精子活力低下及精子形态异常所致不育可能不存在相关,不足以视为男性不育的易感基因。     

Association of uromodulin gene polymorphism with diabetic kidney disease in Han population in Tianjin of China

Objective To investigate the association of single nucleotide polymorphism (SNP) rs13333226 in uromodulin (UMOD) gene with diabetic kidney diseases (DKD) in Han population in Tianjin, China. Methods A total of 210 type 2 diabetes (T2DM), 90 normal controls (NC) and 280 DKD patients were recruited. According to the level of estimated glomerular filtration rate (eGFR), the DKD subjects were further subdivided into three groups: GFR≥90 ml/min group (n=105), 60 ml/mim≤GFR＜90 ml/min group (n=84) and GFR＜60 ml/min group (n=91). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for UMOD rs13333226C genotyping. Results The frequencies of AA, GA, GG genotype were 27.8%, 58.9%, 13.3% in NC group and 41.0%, 48.6%, 10.5% in T2DM group and 54.3%, 36.1%, 9.6% in DKD group．The frequency of G allele was 42.8% in NC group, 34.8% in T2DM group and 27.7% in DKD group. The genotype distribution of UMOD was statistically significant between NC group and DKD group, and between T2DM group and DKD group (P＜0.05). G allele of UMOD was an independent protective gene polymorphism of DKD in Logistic regression (B=-0.248, Wald=8.012, P=0.021, OR=0.780, 95%CI 0.612-0.968). Conclusion The G allele of UMOD gene may be an independent protective factor of DKD in Han population in Tianjin, China.     

Analysis of endothelial nitric oxide synthase (eNOS) G894T polymorphism and semen parameters in a Chinese Han population

Previous studies have shown that endothelial nitric oxide synthase (eNOS) gene may be involved in abnormal semen parameters. However, the relationship between eNOS G894T polymorphism and semen parameters remains controversial. The purpose of this study was to investigate the association of eNOS G894T polymorphism and semen parameters. The genotype frequency of eNOS G894T was determined in 270 idiopathic asthenozoospermia patients and 248 ethnically matched healthy volunteers using iPLEX genotyping assays on a MassARRAY^® (Sequenom, San Diego, CA, USA) platform. The statistical analysis performed with Fisher's exact test showed no significant difference in frequencies of genotypes between both groups. The logistic regression showed that genotypes GT, TT and allele T were nonassociated with increased risk of asthenozoospermia in the patient group with ≤5% or >5% sperm with normal forms. The dependence on genotypes of semen parameters was further investigated in both patients and control group. There was no significant difference as compared to control group (P > 0.05). Our study indicated that eNOS gene G894T polymorphism may not have an adverse effect on semen parameters in a Chinese Han population.     

The association between intron 4 VNTR, E298A and IVF 23+10 G/T polymorphisms of ecNOS gene and sildenafil responsiveness in patients with erectile dysfunction

The objective of the study was to determine the association between intron 4 variable number of tandem repeats (VNTR), E298A and IVF 23+10 G/T polymorphisms of ec-NOS gene and sildenafil responsiveness in patients with erectile dysfunction (ED). Ninety-six patients who were evaluated for ED between November 2003 and June 2004 and 167 healthy individuals representing the normal population as controls were included in the present study. The patients were evaluated by medical history, five-item version of International Index of Erectile Function, serum glucose, testosterone levels and lipid profiles. Sixty-seven patients received four consecutive doses of sildenafil from 25 to 100 mg according to the response. The ec-NOS gene intron 4 VNTR, E298A and IVF 23+10 G/T polymorphisms were evaluated in the isolated DNA blood samples obtained from the patient group with ED (n=96), from the group received sildenafil (n=67) and from the healthy group (n=167). Genotype distributions of ec-NOS gene intron 4, E298A and IVF 23+10 G/T polymorphisms in the patient group were similar to those in the healthy group. The frequency of the ec-NOS gene intron 4 genotype were found as bb=41.7%, ab=50% and aa=8.3% in the sildenafil responders and bb=93.5% and ba=6.5% in the sildenafil non-responders. This finding was statistically significant. Statistical analysis of ec-NOS gene E298A and IVF 23+10 G/T polymorphisms did not reveal any significant difference between sildenafil responders and non-responders. These findings may indicate that 'a' allele of ec-NOS gene intron 4 VNTR polymorphism associates with a better sildenafil response.     

冠心病与内皮型一氧化氮合酶基因多态性的关系

目的 探讨内皮型一氧化氮合酶(eNOS)基因-786T/C,4a4b,894G/T等3个多态性位点与冠心病(CAD)发病相关.方法 对146例中国汉族人群CAD患者和113例正常对照进行遗传学分析,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和PCR技术分析2个SNP位点即-786T/C和894G/T,以及1个VNTR位点4a4b,检测各位点基因型和等位基因频率,采用HaploView 4.0及SPSS 13.0软件经x2检验比较两组间各位点基因型及等位基因频率的差异.结果 CAD组中eNOS基因-786T/C位点CC基因型频率为2.0%,4a4b位点4a/4a基因型频率为5.4%,对照组eNOS基因-786T/C位点CC基因型频率为0.0%,4a4b位点4a/4a基因型频率为0.9%,差异有统计学意义(P＜0.05).CAD组和对照组在eNOS基因的894G/T位点等位基因和基因型频率分布差异均无统计学意义(P＞0.05).结论 eNOS基因-786T/C和4a4b多态性与中国汉族人群CAD存在关联,C等位基因和4a等位基因可能是CAD发病的危险因素.eNOS基因894G/T位点与CAD发病无明显相关.

Abstract：

Objective To investigate the relationship between the 3 polymorphisms ( -786T/C,4a4b,894G/T) in endothelial nitric oxide synthase (eNOS) gene and coronary artery disease (CAD).Methods 146 patients with CAD and 113 healthy unrelated individuals in a Chinese Han nation were involved.The genotype and allele frequency of each polymorphism of the eNOS gene in these patients and normal controls were examined by using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) or PCR methods.Genotypes and allele frequency were analyzed by HaploView 4.0 and SPSS13.0 software.Results The frequency of CC genotype of the -786T/C was 2.0%,and that of 4a/4a genotype of the 4a4b was 5.4% in CAD.The frequency of CC genotype of the - 786T/C was 0.0%,and that of 4a/4a genotype of the 4a4b was 0.9% in controls ( P＜0.05 ).There were significant differences in both allele and genotype frequency of -786T/C and 4a4b between CDA group and control group.Between patients with CAD and controls,there were no significant differences in the frequency of the genotypes and alleles of the 894G/T in eNOS gene.Conclusion The - 786T/C and 4a4b polymorphisms of eNOS gene may be associated with CAD.The individuals with C allele of - 786T/C and 4a allele of 4a4b are susceptible to CAD.There is no significant correlation between 894G/T polymorphism in eNOS gene and CAD.     

载脂蛋白A1、B基因多态性对非创伤性股骨头坏死发生的影响

目的:探讨载脂蛋白A1、B基因多态性对非刨伤性股骨头坏死(avascular necrosis of the femoral head,ANFH)发生的影响.方法:应用聚合酶链反应对中国北方汉族143例ANFH患者和92例正常人分别扩增含Apo AI基因启动子-75 bp和第一内舍子 83 bp及Apo B基因Eco RI、XbaI和3-VNTR的DNA片段,限制性内切酶酶切扩增产物,琼脂糖凝胶电泳分离基因多态性.结果:Apo A1基因启动子-75 bp处,ANFH患者中A/A基因型频率明显高于正常组(P＜0.01),而G/A基因型频率明显低于正常组(P＜0.01).Apo AI内舍子 83 bp位点,Apo B基因Eco RI、Xba I位点和3-VNTR区域ANFH患者组和正常组基因型及等位基因频率分布无统计学差异.结论:Apo A1基因启动子区域-75bp位点A/A型可能是非创伤性股骨头坏死易感基因之一,但未能发现Apo A1第一内舍子 83 bp位点及Apo B基因Eco RI、XbaI和3-VNTR位点多态性与非创伤性股骨头坏死发生有明显的关系.     

Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in han chinese

Objective Genetic variation of cadheri23 (cdh23; 753G>A in exon 7) has been implicated with age-related hearing impairment (ARHI) in mice. This study aimed to test the association of the CDH23 tag single nucleotide polymorphism (SNP) in intron 7 with ARHI in Han Chinese. Study Design Individual cohort study. Setting Tertiary medical center. Subjects and Methods A total of 1175 Han Chinese subjects were divided into the case group (n = 310, 26% with poorest hearing) and the control group (n = 308, the 26% with best hearing) according to the Z(high) score converted from the original frequency-specific hearing thresholds. The CDH23 SNP locus (rs7087735: C/T) in intron 7 (coordinate: 72996763) shown in the HapMap was genotyped with correlation to the hearing phenotype. Results The genotype distributions of CDH23 (CC/CT/TT) were not significantly different between the case and control group (P = .489). Compared with genotype CC, the odds ratios of the genotypes CT and TT for ARHI were not significantly different after adjustment for other environmental factors (P = .299 for CT; P = .610 for TT). Conclusions Despite that the Ahl allele of Cdh23 had been implicated with ARHI in mice, we found no positive association of the CDH23 tag SNP in intron 7 with ARHI in Han Chinese.     

Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.

BACKGROUND: Mutations in the COL4A5 gene, encoding the alpha 5 chain of type IV collagen, are responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with progressive hearing loss and ocular lesions. METHODS: In this study, we analysed all 51 exons of the COL4A5 gene in 20 Chinese patients with XLAS or suspected XLAS from 16 families by using polymerase chain reaction (PCR)-denaturing gradient gel electrophoresis (DGGE) DNA sequencing. RESULTS: Five gene mutations identified in five families were considered to be pathogenic, including one nonsense mutation in exon 1 (266C-->T, Gln22Term), two missense mutations in exons 31 (2757G-->T, Gly852Val) and 43 (4142C-->T, Pro1314Ser), and two splice site mutations in introns 1 and 25 just next to the 3' end of their respective exons (283+1G-->T, 2150+1G-->T). According to GenBank, these five mutations have not been reported previously. All male patients have typical clinical manifestations and pathological findings that closely correspond to the effects of the mutations. Furthermore, seven gene polymorphisms were detected in introns 18 and 10 and exons 20, 27, 29, 39 and 46. Only the substitution in intron 18 (1234+25G-->A) had a gene frequency significantly higher in patients than in normal individuals. CONCLUSION: Our study demonstrated the critical role of COL4A5 gene mutations in the pathogenesis of XLAS. The linkage of the polymorphism to AS is still unknown.     

先天性脊柱侧凸患者中胚层后方同源物2基因外显子突变的筛查

目的:探讨汉族人群中中胚层后方同源物2(mesoderm posterior 2,MESP2)基因外显子突变与先天性脊柱侧凸(congenital scoliosis,CS)发生的关系。方法:2010年5月～2011年3月在我院行手术治疗且有完整影像学资料的散发非综合征型CS患者60例(病例组),其中男23例、女37例,年龄5～23岁,平均13.2±3.8岁;100例健康体检者为对照组,其中男42例、女58例,年龄12～16岁,平均12.9±2.7岁。两组对象均为中国汉族人群,性别相匹配。CS患者分型:形成障碍26例,分节不良13例、混合型21例。从外周血中提取基因组DNA,根据Gene Bank中人类MESP2基因外显子(共2个外显子,exon 1和exon 2)序列设计引物将该基因的两个外显子序列全部扩增出来,然后应用DNA自动测序仪对扩增出来的目的产物进行测序,将病例组MESP2基因两个外显子测序结果与对照组该基因外显子序列、美国NCBI基因库里公布的该基因外显子序列进行比对,将对照组该基因外显子序列与美国NCBI基因库里公布的该基因外显子序列也进行比对。结果:病例组和对照组MESP2基因的exon 1和exon 2均未见突变及新的单核苷酸多态性位点。结论:中国汉族散发非综合征型CS患者MESP2基因外显子无突变,在中国汉族人群中MESP2基因外显子突变与散发非综合征型CS发病可能无关。