用PCR-SSP法分析中国辽宁汉族HLA-DRBI基因多态性

应用PCR－SSP方法对辽宁地区159名无关个体进行HLA－DRB1位点基因分型，检出8组等位基因（扩增片段大小为100bp），基因频率范围在0．02201～0．23899。36种可能基因型中检出33种。经x2检验符合Hardy－Weinberg平衡定律。本地区汉族群体的期望杂合度为85％，观察杂合度为83％。个人鉴别机率（DP）为0．94非父排除率（EPP）为66％。本法具有简单、快速、结果可靠的特点，不仅适用于法医学亲子鉴定和个人识别、移植配型，亦可用于相关疾病及人类遗传学研究。     

用PCR-SSP法分析中国辽宁汉族HLA-DRB1基因多态性

应用ＰＣＲ－ＳＳＰ方法对辽宁地区１５９名无关个体进行ＨＬＡ－ＤＲＢ１位点基因分型，检出８组等位基因（扩增片段大小为１００ｂｐ），基因频率范围在０．０２２０１￣０．２３８９９，３６种可能基因型中检出３３种。经ｘ＾２检验符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。本地区汉族群体的期望杂合度为８５％，观察杂合度为８３％，个人鉴别机率（ＤＰ）为０．９４，非父排除率（ＥＰＰ）为６６％，本法具有简单，快速，结果     

中国北方汉族人群HLA-DQα基因型及其等位基因频率的分布

应用PCR和等位基因特异性寡该苷酸（ASO）探针杂交技术对中国北方汉族人群的HLA－DQα基因进行分型。在246例无关个体中观察到4种等位基因组成的10种基因型。等位基因频率分布在10．0～31．9％之间。基因型的分布符合Hardy－Weinberg定律。DP值为0．8669。对6个家系49个个体的调查表明，HLA－DQα基因按孟德尔方式遗传。不同人群HLA－DQα的DP值比较，中国人群高于其它人群。     

中国(辽宁地区)汉族人群血清H因子多型性分布的研究

应用超薄层聚丙烯酸胶凝胶等电聚焦电泳结合免疫印迹技术，首次报导中国（辽宁地区）汉族人群血清中H因子遗传多型性的分布。HF的基因频率：HFA=0．4828，HFB=0．5172，按Hardy-Weinberg法则进行吻合度检验，其观察值与期望值一致，并对中国（辽宁地区）与其它人群HF等位基因的差异性做了比较。     

内蒙古中西部地区汉族、蒙古族ApoB基因遗传多态性

目的研究内蒙古中西部地区汉族、蒙古族ApoB基因遗传多态性。方法选取内蒙古中西部地区汉族、蒙古族无关个体,采用聚合酶链反应一限制性片段长度多态性技术,判断样本中是否含有ApoB基因中的稀有等位基因：XbaI（x＋）和＆DRI（E-）,并计算其基因型频率、等位基因频率及相关的群体遗传学参数。结果内蒙古汉族群体中稀有等位基因XbaI（x＋）和＆0RI（E-）频率分别为2％和4．6％,而在蒙古族群体中没有检测出此两种稀有等位基因。结论ApoB基因XbaI和＆0RI位点的等位基因频率分布在不同种族中差异较大,具有种族鉴定的应用可能。     

郑州地区汉族人群TFC亚型基因频率调查

我们根据谭明等介绍的超薄层聚丙烯酸胺等电聚焦电泳技术检测TFC亚型的方法，略加改进，对郑州地区214例无亲缘关系的健康人转铁蛋白（TF）亚型的分布进行了调查（表1），其结果用Hardy一Weinberg公式检验，x2=0·4119，df=4．0．975＜p＜0．990，即观测值与期望值吻合度良好。本文调查结果与辽宁、广东、成都等地区的调查结果相比较，无显著性差异（P＞0·25）。根据我们的调查结果，郑州地区汉族人群TFC亚型的非父排除率（EPP）为15·67％，个人识别能力（DP值）为0．5412。郑州地区汉族人群TFC亚型基因频率调查@申成斌$河南省公…     

中国北方汉族群体TPH基因座T3792A位点遗传多态性

目的研究中国北方汉族群体色胺酸羟化酶（TPH）基因座T3792A位点的遗传多态性及其法医学应用价值。方法应用等位基因特异性PCR的方法，检测173例中国北方汉族无关个体TPH基因座T3792A位点的遗传多态性。结果TPH基因座T3792A位点在中国北方汉族群体中的多态性分布符合Hardy—Weinberg平衡定律，等位基因A及T的频率分别为0．486和0．514。结论TPH基因座T3792A位点具有较好的遗传多态性．可应用于个体识别与亲权鉴定。     

中国人D7S21基因应5′端侧翼DNA多态性

分析D7S21基因座5’端侧翼DNA3个基因座多态性（－4A／G、－109C／T和一22lG／C）和单倍体分型。用PCR和扩增产物限制性内切酶酶解的方法检测了100名中国人无关个体的多态性,获得了6个不同等位基因的频率,即-4A＝0．29,－4G＝0．71,－109C＝0．54,－109T＝0．46,－221G＝0．74,－221C＝0．26。结果表明,D7SZI基因座5’端侧翼DNA3个基因座的DP值达0．944,在法医学个体识别中具有很高的个体识别能力。     

vWFⅢ基因座扩增片段长度多态性及其法医学应用

研究短串联重复vWⅢ基因应扩增片段长度多态性及其法医学意义。应用STR－PCR分型法对200名中国辽宁汉族无关个体的短串联重复VWFⅢ的多态性进行调查。共检出8个等位基因,频率分布在0．003～0．333,基因长度范围为154～182bP,个人识别能力为0．921,非父排除率为0．581。群体调查证实该基因座符合Hardy－Weinberg平衡,家系调查结果表明其遗传符合孟德尔方式。该基因座可作为人类群体遗传学的一个有价值的多态性标记,可用于法医学个人识别及亲子鉴定。     

三个单位点DNA杂交联合应用的研究

本文从一些多态位点中筛选出在中国人群中，对于同一种限制酶HaeⅢ酶解都能检出良好多态性的三个单位点探针（PMLJ14、PYNH24、α－globin－3’HVR）。对这三个位点的等位基因频率进行了调查．用DNA指纹自动识别系统进行了数据处理，各位点的数据如下：PMLJ14、杂合度94％，等位基因频率分布0．002～0．051；PYNH24：杂合度89％，等位基因频率分布0．003～0．152；α－globin-3’HVR：杂合度78％，等位基因频率分布0．003～0．077。分析15个家系，未见到变异发生，符合孟德尔遗传规律。这三个位点个人识别中的累加机率是：1．7×10-5～2．1×10-14。     

EsD*5 gene frequency in Tuscany (Italy)

The distribution of the human red cell esterase D (EsD) "extended" polymorphism in a population sample from Tuscany (Italy) was studied using agarose gel isoelectric focusing. The estimated gene frequencies were: EsD*1 0.864, EsD*2 0.115, EsD*5 0.021. The EsD*5 allele frequency is very similar to those reported for other European populations. The "extension" of the EsD polymorphism may prove to be useful in paternity testing.     

Polymorphism of plasminogen in Tuscany (Italy)

The distribution of PLG phenotypes in the population of Tuscany (Central Italy) has been investigated by means of isoelectric focusing followed by immunofixation of desialyzed sera. In a random sample of 383 unrelated healthy blood donors registered at the Hospital of Pisa, three common phenotypes, PLG A, A-B, and B, and two rare variants were found. The allele frequencies calculated in our study were: PLG*A = 0.6749, PLG*B = 0.3225, and PLG*rare = 0.0026. The theoretical exclusion rate in cases of disputed paternity is 17.42%.     

Haptoglobin subtypes in Berlin, GDR. A simple procedure for haptoglobin purification and subtyping

Sera were obtained from 1,275 blood donors in Berlin, probands involved in paternity tests, and from 119 families with 235 children; the sera were subtyped by isoelectric focusing, following preparation and reductive molecular cleavage of haptoglobin. In this paper, an uninvolved preparation technique is described for routine testing. Allelic frequencies are: Hp *1F = 0.1471; *1S = 0.2502; *2FF = 0.0020; *2FS = 0.5753; *2SS = 0.0251. Only one deviation from autosomal codominant inheritance was recorded in the family examinations, with illegitimacy considered possible. In the region of Berlin, the changes of ruling out uninvolved individuals in paternity suits have gone up from 18% (conventional technique recording two frequent alleles) to 33% (subtyping).     

Further evidence of a silent plasminogen (PLG) allele in two paternity cases

Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W greater than 99.75%). In the other case an incompatibility was found in a mother- child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.     

Plasminogen (PLG): a useful genetic marker for paternity examinations

The genetically determined polymorphism of plasminogen (PLG) was analyzed by isoelectric focusing on polyacrylamide gels. For analysis neuraminidase-pretreated sera were used. PLG was developed functionally by activation with urokinase and subsequent lysis of casein in an agar overlay. In a random sample of 957 unrelated healthy individuals from Southern Germany, three common phenotypes, PLG1, 2-1, and 2, and five rare variants were found. The allele frequencies were: PLG*1 = 0.7174, PLG*2 = 0.2780, and PLG*Var = 0.0046. The theoretical exclusion rate in cases of disputed paternity is 16.5%.     

Haptoglobin subtyping by isoelectric focusing in ultrathin-layer polyacrylamide gels. Population genetic data for Hanover and Lower Saxony

This report describes a method for subtyping haptoglobin by means of isoelectric focusing in 0.2-mm ultrathin-layer polyacrylamide gels. Haptoglobin (Hp) is purified by ion-exchange chromatography and reduced. The well-known advantages of ultrathin-layer gels combine high isoelectrophoretic resolution of the Hp subtypes with less demands for time and material and make sequential visualization by fixation and protein staining possible. The distribution of the Hp subtypes in 1500 unrelated adults from Hanover and Lower Saxony is presented. Allelic frequencies are calculated to be: Hp*2FF = 0.0030; *2FS = 0.5620; *2SS = 0.0290; *1F = 0.1537; *1S = 0.2523. Segregation analysis for 68 matings shows an autosomal codominant mode of transmission in all cases. For the population investigated the chance of isolated paternity exclusion with the subtyped Hp system amounts to 33.91%.     

西安汉人D1S80位点基因频率调查

利用PCR技术、小型聚丙烯酰胶凝胶电泳及银染法，检测D1S80位点的VNTR扩增片段长度多态性（Amp－FLP）。在175名无关的西安地区汉族人群中发现了22个等位基因，片段大小分布于320～750bp之间，频率分布为0．0057～03314，杂合度为82．3％，个人识别率（DP）为0.9588，非父排除率（EPP）为0．6704。对7个家系23名相关个体分析，证实DIS80位点的遗传符合孟德尔方式。已发现的64种基因型分布符合Hardg－Weinberg定律。     

复合扩增D16S539、D7S820、D13S317基因座的DNA分型及法医学应用

通过对3个位于不同染色体上的STR基因座（D165539,D7S820,D13S317）所组成的复合扩增体系的DNA分型研究,以期在实际法医物证检验中增加检验基因座,以提高总的个体识别率。笔者运用复合扩增技术,经4％变性聚丙烯酸胺凝胶电泳分离扩增产物和银染检测,首次对108个无关中国人个体的D16S539,D7S820,D13S317基因座进行研究,检测出中国人群中3个基因座的等位基因数均为7个;偶合率P（m）分别为0．0847、0．0740、0．0741;个体识别率DP值分别为0．9153、0．9260、0．9259;杂合度分别为77．7％、79.1％、79．3％;各基因座亲子关系指数PItypical分别为2．24、2．39、2．42。3个STR基因座总的个体识别率很高,达0．9995;总的亲子关系指数PItypical达12．96;所有基因座经卡方检验符合Hardy－Weinberg平衡。通过以上数据可以看出,D165539,D7S820,D13S317基因座所组成的复合扩增体系在中国人群中等位基因分布较好,个体识别率很高,适合用于法医个体识别及亲子鉴定。     

VNTR遗传标记的亲权鉴定研究

采用Amp－FLP技术研究人类血液、组织VNTR位点D1S80（pMCT118）、D17S30（pCNZ－22）和ApoB3’位点的遗传多态性，并应用于亲权鉴定案件，获得满意结果。D1S80、D17S30和ApoB3’的DP值分别为0．962、0．956和0．960，累积父权排除率（EPP）为94．51％，远远高于传统血型的DP值和EPP值，是亲权鉴定和个体识别有效方法。     

中国人群补体C_1R的遗传多态性

采用聚丙烯酰胺等电聚焦电泳，结合免疫印迹技术，对中国辽宁地区360名无关个体的补体C1R遗传多态性进行了研究。共检出6种常见表现型和4种变异型。基因频率C1R*1=0．5181，C1R*2=0．3291，C1R*3=0．1472，CIR*R=0．0056，分布符合Hardy-Weinberg法则。C1R的血型鉴别机率（DP值）为0．7694，是一种具有高度鉴别能力的血清多态性遗传标记。