中国南方汉族人群MICA-TM基因座等位基因分布

目的调查中国南方汉族人群MICA基因穿膜区(TM)基因座多态性分布。方法应用聚合酶链反应和荧光(6-FAM)自动化技术，对中国南方地区106例无亲缘关系汉族人群样本检测MICA—TM，计算基因频率、基因型频率、个体鉴别力、期望杂合性、多态性信息含量和非父排除率。结果MICA—TM基因型分布符合Hardy—Weinberg平衡，共检出MI—CA—TM 5个等位基因，即A4、A5、A5．1、A6和A9；MICA—TM A5基因频率(O．2877)最高，A4基因频率(0．1321)最低；A5—5．1和A5—5基因型分布频率分别为14．15％和10．38％。结论MICA—TM基因座适合作为中国人群的遗传标志，可用于人类学、遗传病的基因连锁分析、法医学亲子鉴定和个体识别等研究领域。     

Analysis of association between common variants in the SLCO6A1 gene with schizophrenia,bipolar disorder and major depressive disorder in the Han Chinese population

Objectives The SLCO6A1 gene belongs to a superfamily of genes which is known to be a solute carrier family of OATPs (SLCO). The SLCO6A1 gene encodes OATP6A1 protein in humans. A previous genome-wide association study (GWAS) of schizophrenia conducted in the Swedish population demonstrated a significant association of rs6878284, which is located in the SLCO6A1 gene, with schizophrenia. To further investigate whether this gene is also a risk locus for schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD) in the Han Chinese population, a case–control study was designed. Methods In total 1,248 unrelated SCZ cases, 1,344 BPD cases, 1,056 unrelated MDD cases and 1,248 normal controls were analysed in this study. We genotyped five SNPs using the Sequenom MassARRAY platform. Results We found no association of rs6878284 with SCZ [Corrected P_allele?=?0.969, Corrected P_genotype?=?0.997]. Furthermore, we found a statistically significant association of the rs7734060 genotype with MDD after correction [rs7734060: Corrected P_allele?=?0.114, Corrected P_genotype?=?0.036] in the Han Chinese population. Conclusions This is the first study which reveals no association of rs6878284 with SCZ and also predicts that rs7734060 could be a risk locus for MDD in the Han Chinese population.     

宁夏汉族女大学生指长比与月经初潮年龄的关系*

目的：探讨宁夏汉族女大学生指长比与月经初潮年龄（AAM）的关系。方法：选取宁夏地区汉族在校女 大学生389 例,采用体质测量及问卷调查方法,比较各指指长比（2D∶3D、2D∶4D、2D∶5D、3D∶4D、3D∶5D、 4D∶5D）均值在左、右手间的差异性,并分析指长比与AAM的相关性。结果：宁夏汉族女大学生左、右手间各 指指长比均值差异无统计学意义,均表现为3D∶5D > 4D∶5D > 2D∶5D > 3D∶4D > 2D∶4D > 2D∶3D的递减趋势; 总人群中,右手2D∶3D、左手2D∶4D、右手2D∶4D及右手3D∶4D与AAM间存在负相关,其余指长比与AAM 无相关性;亚组人群中,右手高2D∶4D与AAM间存在负相关。结论：宁夏汉族女大学生指长比与AAM有关, 右手2D∶4D高的女性AAM可能会相对较早。     

Polymorphisms of HLA-A and HLA-B genes in genetic susceptibility to esophageal carcinoma in Chaoshan Han Chinese

Esophageal carcinoma (EC) occurs at high rate in Chaoshan region of southern China. Human leukocyte antigen (HLA) polymorphism has been implicated in risk for various cancers. To investigate the impact of HLA-A and HLA-B polymorphisms on susceptibility to EC, a case–control study was conducted among 206 patients with esophageal squamous cell carcinoma and 524 controls from Chaoshan Han population. HLA-A and HLA-B polymorphisms were genotyped by polymerase chain reaction-sequence-specific primers. Genotypic association tests for dominant, recessive, and additive models, and haplotypic association were calculated using unconditional logistic regression. A*11 was identified in a recessive model as an only allele strongly associated with EC risk (odds ratios [OR]= 2.10, 95% confidence interval [CI]= 1.33–3.31) even after correction for multiple test. The haplotypes A*02-B*46 (OR = 1.53, 95% CI = 1.04–2.24) and A*11-B*51 (OR = 2.29, 95% CI = 1.20–4.40) showed association with increased risk for EC, whereas A*11-B*58 (OR = 0.00, 95% CI = 0.00–0.82) was associated with decreased risk, though the significance of these haplotypes was lost after correction. This is a first association study at genetic level identifying HLA-A and HLA-B-related variations in genetic susceptibility to EC among Chaoshan population. The variation pattern is likely to be EC-specific because it is different from that observed for nasopharyngeal carcinoma in the same study population and might, at least in part, explain the high rate of EC in this ethnic group.     

宁夏汉族人126名甘露糖结合凝集素基因多态性分析

目的检测宁夏汉族人群中甘露糖结合凝集素(MBL)基因多态性,获得数据为进一步研究MBL基因突变与疾病间的关联性提供依据。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126名宁夏汉族健康个体的MBL基因3个多态性位点,并与广东汉族人群MBL基因多态性的分布进行比较。结果在宁夏汉族人群中,只检测出两种等位基因:野生型A和变异型B,未检出变异型C、D等位基因,同时发现MBL基因的基因频率A为0.853 2,B为0.146 8,基因型频率分别是AA为0.714 3,AB为0.277 8,BB为0.007 9。结论宁夏汉族MBL基因多态性符合Hardy-Weinberg平衡定律,具有群体代表性,与文献中的广东汉族人群相比较有一定的差异。     

中国汉族、维吾尔族、哈萨克族CYP2D6基因型与表型比较

细胞色素P450 2D6(CYP2D6)是最具有基因多态性的药物代谢酶,在不同种族人群中呈遗传多态性并存在明显的种族差异,目前已发现70多个变异位点[1]。基因突变可以引起酶活性及数量的差异[2],     

关于《伤寒论》中药物用量规律的分析

目的根据易学的象数关系理论探讨《伤寒论》中用药与功效的关系。方法采用《伤寒论》原文中的剂量用数和后人对每个药物在不同方中功效的分析,应用Logistic回归、配对卡方检验等统计方法进行量与效关系的研究。结果药物剂量用数与汗、吐、下、和、温、消、清、补8种功效虽有相关,但不能用数来完全解释功效。结论探讨出一种研究《伤寒论》用药规律的方法 ,为后续研究提供思路。     

视网膜断层扫描仪测量广西汉族正常人群视盘参数的研究

目的了解本地区汉族正常人群视盘参数的正常值。方法将三代居住广西隆林县无血缘关系的120例正常汉族成年人纳入研究对象,运用海德堡视网膜断层扫描仪（Heidelberg retina tomograph-Ⅱ,HRT-Ⅱ）分别检测不同年龄段汉族人群视乳头地形图总体参数。结果正常汉族人视盘参数正常值：视盘面积（DA）为（2．2165±0．4266）mm^2,视杯面积（CA）为（0．4816±0．2979）mm^2,盘沿面积（RA）为（1．7311±0．3217）mm^2,视杯／视盘面积比值（C／DAR）为（0．2074±0．1092）,盘沿／视盘面积比值（R／DAR）为（0．7923±0．1091）,视杯容积（CV）为（0．1076）mm^3,盘沿容积（RV）为（0．5196±0．1519）mm^3,平均视杯深度（MCD）为（0．2055±0．0798）mm,最大视杯深度（MxCD）为（0．6039±0．1949）mm,视乳头轮廓线高度变化值（HVC）为（0．4513±0．1639）mm,视杯形态测量（CSM）为（-0．2155±0．0617）mm,平均视网膜神经纤维层厚度（mRN-FLT）为（0．3059±0．0845）mm,视网膜神经纤维层截面面积（RNFLA）为（1．5785±0．3830）mm^2。按年龄分成4组,正常汉族人mRNFLT、RNFLA在49岁以下与50岁以上比较差异有统计学极显著意义（P〈0．01）,而49岁以下各组之间比较差异无统计学意义（P〉0．05）。性别间各参数比较差异无统计学意义（P〉0．05）。眼别间比较差异元统计学意义（P〉0．05）。汉族C／DAR比值双眼差值范围为0．048～0．112。RV和HVC两个参数不受视盘大小影响。结论HRT-Ⅱ可定量检测广西汉族正常人视盘参数,且不同年龄视盘参数的均值与性别及眼别无关,RV和HVC可做为一个评价指标。