西安地区32例北方汉族儿童HLA-DRDQ抗原分布状态的调查分析

我们调查了32例三代内无血缘关系的西安地区汉族健康儿童HLA-DR。DQ抗原分布状况。结果示除HLA-DR_1外,其它抗原频率与北京地区汉族人群HLA-DR,DQ抗原分布状态近似,但HLA-DR_1抗原频率在二者间的差别无统计学意义(Pc≥0.197)。与上海资料比较,二者间差别较大, 因样本例数较少,未作统计学处理。提示HLA-DR抗原在中国南北汉族人群间的分布状态有较明显的差别。与国内部分少数民族HLA-DR抗原分布状态相比较,与蒙古、朝鲜等北方少数民族HLA-DR抗原分布状态相接近。     

IL-1α、IL-4、IL-6、TNFα基因多态性与桥本氏甲状腺炎的关系

目的　对中国山东地区汉族人群白细胞介素 1α(IL 1α)、IL 4、IL 6、TNFα基因多态性与桥本氏甲状腺炎 (HT)的关联性进行研究。方法　选取本院门诊及住院无血缘关系的山东地区汉族患者 10 0例 (女 97例 ;男 3例 ) ,平均年龄 ( 37.6± 14 .0 )岁。对照组 10 0例 (女 79例 ;男 2 1例 ) ,平均年龄 ( 36 .0± 13.8)岁。IL 1α、4、6、TNFα基因多态性的检测 :①用DNA快速提取试剂盒提取外周血白细胞DNA ;②PCR SSP分别扩增IL 1α、4、6、TNFα基因片段。③取PCR反应产物 10 μL及DNA分子量标记物于 1%琼脂糖凝胶加EB染色 ,电泳约 30min ,在紫外线透射仪下观察结果。结果　①HT组IL 4 ( - 5 90 )t等位基因和IL 4( - 5 90 )c/t基因型的频率均低于正常对照组 (P <0 .0 5 )。②HT组与对照组比较IL 1α( - 889)、IL 6 ( + 32 4 7)的等位基因和基因型频率分布及TNFα( + 4 88、- 30 8)等位基因频率分布无显著性差异。③本组HT患者与高加索人HT患者IL 4 ( - 5 90 )等位基因和基因型频率分布比较无显著差异。结论　在中国山东地区汉族人群中 ,桥本氏甲状腺炎患者和正常人之间存在IL 4 ( - 5 90 )等位基因和基因型频率分布的差异。桥本氏甲状腺炎患者IL 4 5 90位置启动子区t等位基因频率下降     

IL-1B+3954/Taq Ⅰ基因多态性与慢性牙周炎易感性的关系

目的 探讨IL-1B +3954/Taq Ⅰ基因多态性与慢性牙周炎易感性的关系.方法 收集汉族人群116名受试者,其中包括66例中重度慢性牙周炎(CP)患者和50例牙周健康对照者,提取外周静脉血白细胞DNA,采用标准化的聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,进行IL-1B+3954/Taq Ⅰ基因型的检测,比较各基因型检出率的差别.结果 IL-1B+3954/Taq Ⅰ位点均以A1/A1基因型占优势,CP组A1/A2基因型检出率和健康对照组相比无统计学差异.结论 IL-1B+3954/Taq Ⅰ等位基因2可能与汉族人群中重度慢性牙周炎遗传易感性无关.     

先天性巨结肠与RET基因c135位点单核苷酸多态性相关性分析

目的确定国人陕西地区正常汉族人群中是否存在RET基因c135位点单核苷酸多态性及基因频率,研究先天性巨结肠患儿该位点基因型与表型的相关性,探讨其病因。方法整体抽样随机选取40例陕西西安地区健康汉族献血者血样进行DNA抽提。对16例病理诊断证实为先天性巨结肠患儿狭窄段肠组织标本进行DNA提取(均为陕西地区患儿,汉族,散发性)。PCR扩增RET基因外显子2(含c135片段),长度300 bp,产物纯化后直接测序,并用相关软件及统计学分析。结果陕西地区正常汉族人群存在RET基因c135位点单核苷酸多态性A/G,A、G基因频率分别为0.475、0.525,各等位基因频率接近,G等位基因频率稍占优势。病例组16例A、G基因频率分别为0.844,0.156。病例组基因型以突变型AA(13/16)为主。对照组与病例组存在明显差异(P<0.001)。A等位基因与疾病关联强度OR=5.97,OR95%CI(2.24,15.92),OR值在0.05水平上有显著性。结论国人陕西地区汉族人群RET位点存在单核苷酸多态性A/G,c135G>A。先天性巨结肠表型与该位点A基因型明显相关。RET基因c135位点单核苷酸多态性纯合突变型AA在先天性巨结肠患儿中过高表达。     

西安汉族人群HLA-DQA1基因座遗传多态性研究

目的　了解西安汉族群体HLA DQA1基因座的基因及基因型分布 ,获得西安汉族群体HLA DQA1群体遗传学数据。方法　采用PERKIN ELMER公司生产的AmpliTypePM试剂盒 ,PCR扩增HLA DQA1基因座 ,与 11个寡核苷酸探针杂交 ,对西安地区汉族 10 2名无关个体HLA DQA1基因座进行基因频率调查。结果　检出 7种等位基因、2 8种基因型 ,经 χ2 检验基因型的观察值与期望值符合Hardy Weinberg平衡定律 (P >0 .5 ) ,其杂合度 (H)、个体识别率 (DP)、非父排除率 (EPP)和多态信息量 (PIC)分别为 0 .8317、0 .9393、0 .786 6和0 .82 5 0。结论　所得到的群体遗传学数据为遗传学、法医学个体识别和亲权鉴定提供依据     

内脂素基因多态性与2型糖尿病的关系

目的探讨内脂素(visfatin)rs11977021、rs12537455、rs2110385位点单核苷酸多态性与2型糖尿病易感性的关系。方法收集陕西西安地区汉族人群192例受试对象,其中106例单纯2型糖尿病(T2DM)患者和86例健康对照者,采用标准化的聚合酶链反应-限制性片段长度多态性(PCR-RLFP)方法,分别检测内脂素(visfatin)rs11977021/DdeⅠ、rs12537455/AluⅠ和rs2110385/AluⅠ基因型并进行比较。结果 rs2110385位点的T等位基因频率和GT基因型频率在T2DM组均高于健康对照组(分别为28.3、14.0和14.2、7.0,P均<0.05);两组的rs11977021位点和rs12537455位点C、T等位基因及基因型频率分布均无统计学差异(P>0.05);单倍型分析显示T-C-T和T-T-T单倍型在T2DM组均显著高于健康对照组(分别为0.066、0.026和0.029、0.012,P均<0.05)。结论 Visfatin基因rs2110385位点在陕西西安汉族地区人群中存在遗传变异,其rs2110385多态性位点的T等位基因可能与T2DM的发病风险有一定的关系。     

西安地区486名汉族青年中苯硫脲味盲基因频率的研究

用■值法对西安地区486名汉族青年中苯硫脲味盲基因(t)的频率进行了调查。结果是味盲基因(t)频率为0.2168。尝味平均■值为9.19±1.83。     

陕西汉中地区人群15个STR基因座的多态性分析

目的　调查 15个STR基因座 (D3S135 8、vWA、FGA、TH0 1、TPOX、CSF1PO、D5S818、D13S317、D7S82 0、D16S5 39、D8S1179、D2 1S11、D18S5 1、D2S1338、D19S4 33)在陕西省汉中地区汉族人群中的多态性分布 ,为群体学研究、法医学个体识别和亲权鉴定提供基础数据。方法　应用AmpF/STRIdentifiler荧光标记复合扩增试剂盒 ,结合ABI310 0Avant遗传分析仪 ,对汉中地区 10 3名汉族无关个体的静脉血进行扩增和电泳检测 ,并利用Genescan和Genotype软件进行自动分型。结果　 15个STR基因座在汉中地区汉族人群中的等位基因频率分布在 0 .0 0 4 9～ 0 .5 0 4 9,基因型频率分布在 0 .0 0 97～ 0 .32 0 4 ,累计耦合概率为 5 .5× 10 -17,累计非父排除率为 0 .999999999。结论　我们所应用的 15个STR基因座在陕西汉中地区汉族人群中具有较高的多态性 ,适合于该地区的群体学研究、法医学实践     

基质金属蛋白酶2,9基因多态性与早发冠心病遗传易感性的研究

目的 探讨中国陕西地区汉族人群基质金属蛋白酶-2(matrix metalloproteinase-2, MMP-2)基因rs2285053及基质金属蛋白酶-9(MMP-9)基因rs3918242单核苷酸多态性与早发冠心病(premature coronary artery disease, PCAD)发病的关联性.方法 应用聚合酶链反应-限制性片段长度多态性方法,检测92例PCAD患者(PCAD组)和95例年龄及性别相匹配的非冠心病者(对照组)的rs2285053(-735C/T)、rs3918242(-1562C/T)基因的单核苷酸基因多态性,判定其基因型并统计各基因型及等位基因的频率.ELISA法检测血浆MMP-9的水平.结果 MMP-2 rs2285053位点多态性在PCAD组和对照组中的基因型分布和等位基因频率差异无统计学意义(χ2=1.33,P=0.249).MMP-9 rs3918242位点PCAD组C/T+T/T型高于对照组(χ2=6.22,P=0.013),T基因频率亦高于对照组,有显著性差异(χ2=7.75,P=0.005,OR=2.66).早发急性冠脉综合征组(premature acute coronary syndrome, PACS)C/T+T/T型高于对照组,与早发稳定性心绞痛相比差异无统计学意义(χ2=9.11,P=0.003;χ2=2.29,P=0.13),早发稳定性心绞痛与对照组相比差异亦无统计学意义(χ2=1.3,P=0.254).Logistic回归分析显示,MMP-9 rs3918242位点携带T等位基因为PCAD发病的独立危险因素.结论 MMP-2 rs2285053(-735)位点多态性可能与PCAD的发病无相关性,MMP-9 rs3918242位点可能与PCAD及PACS发病相关,rs3918242(-1562)T等位基因可能是PCAD的遗传易感基因.     

Ghrelin基因Arg51Gln多态性与西安汉族2型糖尿病、高血压病的相关性

目的 研究ghrelin基因Arg51Gln多态性在中国西安汉族人群的分布情况,并探讨该多态性与2型糖尿病、高血压病发病的相关性.方法 应用PCR-限制性片段长度多态性法分析中国西安地区汉族人305例(正常对照组80例;2型糖尿病组125例;高血压病组48例;2型糖尿病合并高血压病组52例)Ghrelin基因Arg51Gln多态性的分布及其与临床指标间的相关性.结果 2型糖尿病组、高血压病组、2型糖尿病合并高血压病组的基因型频率分别与正常对照组相比,均无统计学意义(P值分别为:0.652、0.201、0.212);等位基因分布分别与正常对照比较无统计学意义(P值分别为:1.002、0.199、0.124);2型糖尿病组Gln51等位基因携带者的BMI、FINS、HOMA-IR均高于野生型(P值分别为:0.045、0.003、0.041).结论 该基因多态性与2型糖尿病胰岛素抵抗相关,Ghrelin基因Arg51Gln多态性与高血压病无相关性.     

PD-1基因多态性与自身免疫性甲状腺病的相关性

目的探讨PD-1基因多态性在西安地区汉族人中的分布及与自身免疫性甲状腺病(AITD)的关系。方法应用PCR-RFLP方法检测127例健康人、125例Graves病(GD)患者、117例桥本氏甲状腺炎(HT)患者PD-1基因三个单核甘酸多态性位点PD-1.1、PD-1.3、PD-1.5的基因型。结果发现西安地区汉族人PD-1.3位点不存在多态性;健康人、GD患者与HT患者PD-1.1、PD-1.5基因型、等位基因频率无显著性差异。结论PD-1.1、PD-1.3和PD-1.5基因型不能作为PD-1基因与AITD相关的遗传标志。     

MEASUREMENT OF NASAL FIGURE BY MAGNETIC RESONANCE IMAGING

Restoring the nasal figure is an important stepin facial reconstruction and medicolegally recon-structing skull because of the special characteris-tics of nose position and construction on face.Some researches have proved that nasal figure hadnot only racial, also sexual characteristics, and itcould change' as the increase of the individuals'age. In order to get the basic materials of nasal fig-ure of the Han nationality in Xi'an area, we havemeasured noses of 3l3 cases of the Han nationality…     

西安汉族、西藏珞巴族DXS6799和HPRTB位点的遗传多态性

目的调查X染色体STR位点DXS6799、HPRTB在西安汉族、西藏珞巴族的遗传多态性。方法应用PCR和聚丙烯酰胺凝胶电泳及银染技术进行基因分型。结果西安汉族DXS6799检出6个等位基因,基因频率在0.0160～0.4840之间,女性和男性的个体识别率分别为0.8516、0.6157;HPRTB位点检出8个等位基因,等位基因频率在0.011～0.290之间,女性和男性的个体识别率分别为0.7974、0.7039。西藏珞巴族DXS6799检出5个等位基因,基因频率为0.0222～0.6074之间,女性和男性的个体识别率分别为0.7684、0.5805;HPRTB位点检出5个等位基因,等位基因频率在0.0420～0.3866之间,女性和男性的个体识别率分别为0.8661、0.7029。西安汉族、西藏珞巴族女性的基因型分布均符合Hardyweinberg平衡。结论DXS6799和HPRTB有较高的个体识别率和非父排除率,在个体识别和亲权鉴定中有应用价值。     

Effect of ABCA1-V771M polymorphism on plasma lipid levels and its relationship with coronary atherosclerotic heart disease

Objective To explore the risk association of ABCA1-V771M polymorphism with coronary heart disease (CHD) in Hart nationality in Northwest of China. Methods With case-control study, ABCA1-V771M polymorphism was detected in 204 unrelated Hart nationality people in Northwest of China, and all the subjects by coronary angiography were grouped into 106 cases and 98 controls. The genotypes and alleles frequency distribution of ABCA1-V771M polymorphisms were analyzed by PCR-RFLP analysis, and the clinical statistics of serum lipids were compared and its effects of ABCA1-V771M polymorphism on the plasma lipid levels and coronary atherosclerotic heart disease were analyzed. Results The genotypic frequencies of ABCA1-V771M polymorphism matched well under Hardy-Weinberg equilibrium (P>0.05), V and M allelic frequencies were 33.3% and 66.7%. In comparison with VV VM genotype carriers, MM genotypes carriers had much lower plasma levels of HDL-C (P<0. 001) and much higher plasma levels of TG (P<0. 05). M allelic frequency in CHD group was significantly higher than V allelic frequency (P<0. 05). M allele was related with more severity of atherosclerosis in the coronary artery than V allele (P<0.05). However, there was no obvious difference in the incidence of AMI among carriers with three genotypes of ABCA1-V771M polymorphism (P>0.05). Conclusion ABCA1-V771M polymorphism was not only associated with the plasma levels of HDL-C and TG, but also related to the susceptibility and severity of coronary atheroselerotic heart disease. Moreover, M771 allele appeared to be atherogenie among Han population in Northwest of China.     

RESEARCH OF GENETIC POLYMORPHISM OF 5-HTT IN CHILDHOOD AUTISM

Objective To reveal the relationship between the 5-HTTLPR and the Chinese Han nationality children with CA, compared the distribution of the 5-HTTLPR between the Han Chinese children with CA and healthy Han Chinese children , and analyzed the association between the 5-HTTLPR and clinical symptoms of the Han Chinese children with CA. Methods Genomic DNAs of fifty subjects including 25 autistic children and 25 controls were extracted from blood samples. PCR amplification using Oligonucleotide primers flanking 5-HTTLPR was performed. Results① Three kinds of alleles including the S （short） allele, the L （long） allele and the VL allele were found , and the 5-HTTLPR genotypes shown were S/S, L/L, S/L and L/VL. ②Allele frequencies did not differ significantly in patient groups in comparison with the control sample. No significant difference was identified between the observed 5-HTTLPR genotype distribution of the patient groups and control group. ③The distribution of homozygons and heterozygous subjects between the two groups differed significantly. ④ The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor. ⑤ The allele frequency of healthy Han Chinese population and that of healthy Japanese population were similar. The frequency of S allele in not only autistic subjects but also healthy children in this study was considerably more than that in Caucasians and the frequency of L allele in our subjects decreased correspondingly. Conclusion ① A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found. ② The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor of the patients. ③ The homozygote and the L allele were positively relevant to CA and they might be the risk factors of CA. The heterozygote and the S allele were negatively relevant to CA and they might be the protective factors of CA.     

不同民族青少年运动选材分析

采用比较研究等方法,揭示汉族、蒙古族、回族、维吾尔族、朝鲜族、苗族、壮族等9—11岁男生的身体形态、身体机能、身体素质特征,旨在为运动员选材提供科学依据。     

陕西咸阳某学院部分学生肠道蠕虫感染调查

本文对1986～1988年,来自西藏地区新入学的144名学生,入学进行肠道蠕虫调查,结果表明:绦虫感染率,藏族学生(15.7%)比汉族学生(2.4%)高,(P<0.05);蛔虫和鞭虫的感染率,汉族学生(33.3%和21.4%)比藏族学生(9.8%和7.8%)高,(P<0.01和0.05),另外,蛔虫和鞭虫在西藏地区的感染和分布,具有地区性差异。