Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy)

Human red cell Esterase D (EsD) was analyzed by isoelectric focusing (IEF) on ultrathin-layer polyacrylamide gel with a pH range of 5.0-6.0. Hemolysates were treated with Dithiothreitol to avoid loss of activity and change of the isozyme patterns by in vitro storage effects. In our sample of 951 unrelated persons from Veneto, seven different phenotypes were observed. The following allele frequencies were calculated: EsD1 = 0.8476, EsD2 = 0.1336, EsD5 = 0.0178, and EsDV = 0.0010.     

上海地区D1S80位点基因频率分布及其在亲子鉴定中的应用

目的：将D1S80位点的DNA多态性分析应用于亲子鉴定。方法;PCR、聚丙烯酰胺凝胶电泳及溴已锭染色。结果：获得D1S80位点的DNA多态性分布数据。结论：D1S80位点的PCR检测方法可成功地用于亲权纠纷案的鉴定。     

Two-man and two-sibling paternity cases.

Traditional genetic marker systems rarely fail to resolve paternity disputes when two or more men are accused, except when men are brothers. A sibling of the biologic father may not be excluded by these laboratory tests and sometimes yields calculated odds of paternity that are equal to or higher than the true male parent. Resolved two-brother cases were compared with resolved cases involving two unrelated men. In each case, the residual odds of paternity were determined for each man and the greater was divided by the lesser to produce a paternity fraction. The paternity fraction is a useful indicator of biologic parentage when it exceeds a value of 10 (log10 of-the-odds score greater than or equal to 1). Tests for alleles at highly heterozygous loci are indicated in initial laboratory evaluations of cases involving brothers. Human leukocyte antigen and variable number of tandem repeat polymorphisms appear suitable.     

VNTR D17530位点多态性在亲子鉴定中的应用

运用微量热启动PCR技术,对20例正常家系的遗传学分析,证实D17530位点的遗传符合孟德尔遗传规律,表现为简单的共显性遗传。同时,对100例亲子鉴定案例进行回顾性分析研究,证明D17S30位．在多态性可应用于我国法医学亲子鉴定。根据D17S30位点基因频率估算的排除概率（74．04％）与其实际排除能力（80．00％）无显著差异。在15倒排除亲子关系的案例中,有2例由D17S30位点单独取得排除证据。D17S30位点是法医学上有重要意义的遗传学标记,可用于亲子鉴定。     

广东汉族人群D7S809的基因频率及其在亲子鉴定中的应用

利用PCR和聚丙烯酰胺凝胶电泳分型技术,调查了以四核苷酸为重复单位的位点D7S809在广东人群的群体资料。在190个被调查的个体中,共发现14个等位基因和50种基因型。经计算杂合率、个人识别率和非父排除率分别为0.8613、0.9645和0.7184,基因型分布符合Hardy-Weinberg平衡。D7S809位点已成功地应用于100例亲权鉴定案中。D7S809是一个高度多态性、稳定、易于分型的位点,在法医学上极有应用价值。     

三联体亲权指数的统一算法及其扩展应用

目的介绍一种在生母参与情形下,孩子与被鉴定人间常用亲缘关系指数的统一算法。方法以计算三联体亲权指数（paternity index in trios,PIT）的公式为基础,分析不同亲缘关系指数计算公式中的公因子,并以此公因子对不同情形下PIT计算公式进行统一描述,采用叔伯指数定律和亲缘系数（r）将上述PIT统一计算公式扩展至祖孙、半同胞、叔侄及第一代堂兄弟等不同情形下的亲缘关系指数的运算。结果以状态一致性等位基因的频率倒数加1为公因子,在引入亲缘系数（r）的情形下,获得了可计算在生母参与时,孩子与被鉴定人间任意亲缘关系指数的两个公式。结论在生母参与情形下,孩子与被鉴定人间亲缘关系指数的统一算法简化了运算过程,有利于编程实现批量计算。     

Polymorphism of the human phosphoglycolate phosphatase in Northrhine-Westphalia (F.R.G.) and its application to paternity testing

Blood samples from 563 unrelated German and from 110 Turkish individuals living in the Düsseldorf area were studied for phosphoglycolate phosphatase polymorphism. The distribution of the observed phenotypes in the population genetic study did not diverge from the expected values according to Hardy-Weinberg law. In our series, the gene frequencies were calculated as follows: (a) Germans: PGP1 = 0.851, PGP2 = 0.118, PGP3 = 0.031, (b) Turks: PGP1 = 0.973, PGP2 = 0.018, PGP3 = 0.009. The assumed autosomal codominant mode of inheritance was confirmed by the examination of 109 mother-child pairs and by analysis of 70 cases of disputed paternity. The plausibility to exclude German non-fathers from paternity is 12.78%.     

The esterase D polymorphism as revealed by isoelectric focusing in ultra-thin polyacrylamide gels

The polymorphism of human red cell esterase D (EsD) was studied using isoelectric focusing (pH 4-6) in ultra-thin polyacrylamide gels. Typing was possible without the EsD isozymes attaining true equilibrium focusing conditions. Using this single method, six phenotypes (EsD 1, 2-1, 2, 5-1, 5-2 and 5) could be recognized in the White population of south-east England. Family studies showed these to be controlled by three co-dominant alleles and the gene frequencies were calculated to be EsD1 0.8856; EsD2 0.0946 and EsD5 0.0198. For successful and reliable EsD typing by this method, the electrophoretic system must be carefully optimized with respect to the duration of electrophoresis and the temperature attained in the gel during the electrophoretic run.     

Combination of DNA-based and conventional methods to detect human leukocyte antigen polymorphism and its use for paternity testing

In cases of disputed paternity, the scientific goal is to promote either the exclusion of a falsely accused man or the affiliation of the alleged father. Until now, in addition to anthropologic characteristics, the determination of genetic markers included human leukocyte antigen gene variants; erythrocyte antigens and serum proteins were used for that reason. Recombinant DNA techniques provided a new set of highly variable genetic markers based on DNA nucleotide sequence polymorphism. From the practical standpoint, the application of these techniques to paternity testing provides greater versatility than do conventional genetic marker systems. The use of methods to detect the polymorphism of human leukocyte antigen loci significantly increases the chance of validation of ambiguous results in paternity testing. The outcome of 2384 paternity cases investigated by serologic and/or DNA-based human leukocyte antigen typing was statistically analyzed. Different cases solved by DNA typing are presented involving cases with one or two accused men, exclusions and nonexclusions, and tests of the paternity of a deceased man. The results provide evidence for the advantage of the combined application of various techniques in forensic diagnostics and emphasizes the outstanding possibilities of DNA-based assays. Representative examples demonstrate the strength of combined techniques in paternity testing.     

Genetic analysis of erythrocyte uridine monophosphate kinase and aminolevulinate dehydrase and its application to paternity testing

Simultaneous determination of uridine monophosphate kinase (UMPK) and aminolevulinate dehydrase (ALAD) has been carried out after discontinuous starch gel electrophoresis in the Galician population (NW Spain), including 129 families with a total of 291 descendents. Formal genetic studies are in agreement with the autosomal codominant way of inheritance for each locus. No evidence of phenotype association between both loci among the offspring is observed. Chance of exclusion for non-fathers is 0.041 13 for UMPK and 0.0702 for ALAD configuring a total exclusion rate of 0.1085 when both systems are evaluated together.     

单亲案的亲权概率的计算及认定标准

确定单亲案的亲权概率计算方法和认定标准。用多基因座DNA分析方法和计算多基因座累积平均非父排除率计算公式。检测8个以上的DNA多态性基因座,在等位基因的遗传不违反孟德尔规律的前提下,父权概率都可达到或超过0.9990的标准;对不存在亲生关系的案例,在用本方法时,都有3个或更多的基因座的等位基因遗传违反孟德尔规律。对单亲案的亲权鉴定,检测的多态性基因座要在8个以上。在肯定亲生关系时,父权概率要达到或超过0.9990;在否定亲生关系时,必须有3个以上或更多的基因座违反孟德尔遗传规律。     

A simplified procedure for simultaneous detection of salivary proteins and its application in paternity testing

An alternative simplified procedure for the genetic analysis of salivary protein complex (SPC) which eliminates the need for a specific concentrated parotid sample is proposed. After the technique is applied isoelectric focusing and protein detection is carried out by silver staining. The chance of exclusion of non-fathers for these systems in our population is 0.161711 for Pr, 0.07948 for Db, 0.07836 for Pa and 0.00995 for PIF. The total exclusion rate for these systems is 0.30042.     

Autopsied cases of drowning in Denmark 1987-1989.

In the 3-year period 1987-1989, 219 drowning cases were submitted to medico-legal autopsy in Denmark. The demographic data including the manner of death and the external findings are reported. In 74 accident cases analysis for blood-alcohol concentration was performed. In 53% a concentration of more than 0.1% was found. In 91 drowning cases (age more than 18 years and where the time interval in the water was less than 24 h) the average weight of both lungs was 1.411 g, compared to 994 g in 20 control cases. In 7% of the drowning cases the weight was less than 1.000 g, so called dry lungs. Finally the weight of the lungs and the amount of pleural transsudate in relation to the time interval in the water were registered in 198 cases. For a longer time interval in the water the weight of the lungs decreased, while the amount of pleural transsudate increased. By adding these two parameters, the combined weight was between 1.000 and 2.200 g in more than 75% of the cases as long as the interval in the water was less than 30 days.     

Beyond traditional paternity and identification cases. Selecting the most probable pedigree

The paper extends on the traditional methodology used to quantify DNA evidence in paternity or identification cases. By extending we imply that there are more than two alternatives to choose between. In a standard paternity case the two competing explanations H(1): "John Doe is the father of the child and H(2): "A random man is the father of the child, are typically considered. A paternity index of 100000 implies that the data is 100000 more likely assuming hypothesis H(1) rather than H(2). If H(2) is replaced by "A brother of John Doe is the father", the LR may change dramatically. The main topic of this paper is to determine the most probable pedigree given a certain set of data including DNA profiles. In the previous example this corresponds to determining the most likely relation between John Doe and the child. Based on DNA obtained from victims of a fire, bodies found in an ancient grave or from individuals seeking to confirm their anticipated family relations, we would like to determine the most probable pedigree. The approach we present provides the possibility to combine non-DNA evidence, say age of individuals, and DNA profiles. The program familias, obtainable as shareware from http://www.nr.no/familias, delivers the probabilities for the various family constellations. More precisely, the information (if any) prior to DNA is combined with the DNA-profiles in a Bayesian manner to deliver the posterior probabilities. We exemplify using the well published Romanov data where the accepted solution emerges among 4536 possibilities considered. Various other applications based on forensic case work are discussed. In addition we have simulated data to resemble an incest case. Since the true family relation is known in this case, we may evaluate the method.     

C6-polymorphism of the sixth component of complement: application to paternity cases (author's transl)]

The results of a study of the polymorphism of the sixth component of human complement by means of isoelectric focusing in polyacrylamide gels with subsequent C-dependent lysis in an agarose overlay containing C6 deficient rabbit serum are reported. The allele frequencies obtained (C6A = 0.613, C6B = 0.379, C6R = 0.008) are in good agreement with those previously published. The mode of inheritance in 47 families with 173 offspring as well as 26 mother-child combinations is in agreement with a formal genetical model: "C6A, C6B, C6A1 and C6B1 at an autosomal locus". The inclusion of this system into a blood group expertise in Germany can be recommended.