Population data on the forensic genetic markers: phosphoglucomutase-1, esterase D, erythrocyte acid phosphatase and glyoxylase I

Blood specimens from white and black sample populations from Baltimore, Maryland, were analyzed for the four most forensically important, polymorphic red cell enzyme systems-phosphoglucomutase-1, esterase D, erythrocyte acid phosphatase and glyoxalase I. The distributions of the phenotypes for each marker in each racial group were in Hardy-Weinberg equilibrium. The population data were similar to previously reported data for Whites and Blacks from different geographical locations within the United States.     

The effects of heat upon the glyoxalase I isoenzyme

It was observed during the course of routine casework that different bloodstains from the same individual could produce anomalies in the glyoxalase I band patterns. Bloodstains were heated at different temperatures for periods of 4 and 6 h and then examined using electrophoretic techniques. It was demonstrated that upon heating, band alterations in the glyoxalase I Type 1 phenotype can occur, causing the analyst to render the results inconclusive.     

Studies on glyoxalase 1 isoenzymes in semen stains: polymorphism in Himachal (India) population

One hundred and ten pairs of blood and semen samples and their stains were studied to type glyoxalase 1 (GLO 1) isoenzymes using agarose-starch medium. A good agreement was observed between the phenotypes expressed in blood and semen samples of the same donor. No GLO 1 activity however could be demonstrated in the vaginal swabs tested. The gene frequencies of GLO 1 polymorphs in Himachal population has been worked out and their stability studies carried out at -12 degrees C and at room temperature.     

Population frequencies of carbonic anhydrase II (CA II), esterase D (EsD), and glyoxalase I (GLO) in the Metropolitan Birmingham, Alabama area

Both black and white populations from Birmingham, Alabama were analyzed for the frequencies of carbonic anhydrase II (CA II), glyoxalase I (GLO) and esterase D (EsD) isoenzymes. The results compared favorably with published frequencies of these genetic markers in other populations.     

An agarose gel electrophoretic method for typing phosphoglucomutase-1, esterase D, or glyoxalase I

A conventional agarose gel electrophoretic method was described for typing phosphoglucomutase-1, esterase D, or glyoxalase I as single systems. Bloodstain extracts were absorbed into 1-mm-thick agarose gels via an application mask. The electrode wick distance was 12 cm and electrophoresis was carried out at 400 V at 6 degrees C. The electrophoretic run times were 30 min for glyoxalase and 1 h for esterase D or phosphoglucomutase. This method is reliable and produces highly resolved band patterns. Additionally, the shorter separation times as a result of the increased voltage gradient permitted typing of more samples in a given time period compared with presently used methods. This technique requires little technical expertise and can be incorporated into the laboratory at a minimal cost.     

Electrophoretic typing of glyoxalase I (GLO I) isoenzymes using a mixed starch/agarose gel

A technique was developed to type the glyoxalase I (GLO I) isoenzymes using a mixed agarose/starch gel. Over six hundred blood samples from Caucasoid people living in separate regions of South Australia were examined and the results compared with other Caucasoid population surveys. Paired blood and semen samples were also tested and the limitations of the technique with regard to blood and semen stains analysis was evaluated.     

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A technique was developed to type the glyoxalase I (GLO I) isoenzymes using a mixed agarose/starch gel. Over six hundred blood samples from Caucasoid people living in separate regions of South Australia were examined and the results compared with other Caucasoid population surveys. Paired blood and semen samples were also tested and the limitations of the technique with regard to blood and semen stains analysis was evaluated.     

The simultaneous separation of the enzymes glyoxalase I, esterase D, and phosphoglucomutase

A procedure for the multisystem analysis of bloodstains using the simultaneous separation of the enzymes glyoxalase I, esterase D, and phosphoglucomutase has been developed. The amount of bloodstain required has therefore been reduced threefold without any loss in resolution and sensitivity. Bloodstains at least seven weeks old have been correctly phenotyped in all three systems.     

Glyoxalase I typing and phosphoglucomutase-1 subtyping of a single hair

A technique is described for the typing of glyoxalase I (GLO I) and the subtyping of phosphoglucomutase-1 (PGM-1) from the root sheath cells of a single forcibly removed hair. This procedure does not require sample preparation and does not alter the morphological characteristics of the hair. The combined discrimination probability (DP) of the two markers taken together is 0.90 for whites and 0.89 for blacks. GLO I can be typed after four weeks, and PGM-1 can be typed after eight to fifteen weeks in hairs maintained at room temperature. Hairs mounted with Permount showed loss of enzyme activity and loss of band sharpness.     

Distributions of genetic markers in United States populations: II. Isoenzyme systems

All published and unpublished population frequency data that could be located for U.S. populations is tabulated and presented for the isoenzyme systems phosphoglucomutase, esterase D, adenylate kinase, acid phosphatase, glyoxalase I, adenosine deaminase, 6-phosphogluconate dehydrogenase, glutamic-pyruvic transaminase, carbonic anhydrase II, and glucose-6-phosphate dehydrogenase. Results obtained by combining data for comparable racial/ethnic groups are also presented. The results obtained with combined data may give better information on frequencies for the U.S. population at large than is obtainable from studies conducted in restricted geographic areas.     

Examination of the correlation of groupings in blood and semen

The grouping of blood/saliva samples from a male so as to predict his semen groups is only justified if there is a strict correlation between the groupings in these body fluids. This correlation has been examined in the ABO, phosphoglucomutase (PGM1) and glyoxalase I (GLO) grouping systems in blood and semen samples collected from more than 250 individuals. Though no results proved inconsistent with this correlation, a number of semen gave inconclusive grouping results. Reasons for this are discussed as well as the relevance of the results to semen stain analysis. Semen amylase activities are also reported.     

Mismatched multiplex PCR amplification and subsequent RFLP analysis to simultaneously identify polymorphisms of erythrocytic ESD, GLO1, and GPT genes

ESD (esterase D), GLO1 (glyoxalase I), and GPT (glutamate pyruvate transaminase) are human erythrocytic isoenzymes and have previously been applied in forensic medicine caseworks. The molecular bases of the polymorphic gene expression products have been demonstrated to be because of SNPs in respective coding regions. However, it has not been revealed whether the SNPs conferring the polymorphisms to the aforementioned erythrocytic isoenzymes could be simultaneously detected by using a simple PCR method. In this study, we used mismatched primers to simultaneously amplify three common isoenzyme loci so that all amplified products contained the same Hph I cleavage sites. The products were then digested with Hph I and electrophoretically separated and stained so that alleles were identified. The accumulated values for the probability of discrimination power and excluding the probability of paternity to the aforementioned systems attained 90.41% and 41.72%, respectively, in the Chinese Han population. This assay could be extremely valuable for future forensic medicine practices.     

广州人群红细胞GLOI表型的分布调查及血痕GLOI的检测

本文报道了广州地区人群的GLOI表型分布,基因频率为:GLOI~1=0.1716,GLOI~2=0.8284。室温下(25-30℃)保存的血痕20天内可全部正确分型;日晒8小时,露天过夜,4℃保存105天的血痕均可正确分型;流水冲洗2小时的血痕不能分型;室内腐败血标本9天内检测结果可靠。在实际应用时应考虑这些因素。     

Simultaneous phenotyping of genetic markers for paternity testing

Time-and cost-saving methods for paternity testing are described. Seventeen genetic systems were divided into six groups: (1) transferrin (Tf), factor B (Bf), and phosphoglucomutase 1 (PGM1); (2) group-specific component (Gc) or alpha 1-antitrypsin (PI) and alpha 2HS-glycoprotein (HSGA); (3) complement components C6 and C7, factor 13B (F13B), and plasminogen (PLG); (4) haptoglobin (Hp), C8 alpha-gamma chain (C81), and factor I (IF); (5) red cell acid phosphatase (ACP), esterase D (ESD), and glutamic-pyruvic transaminase (GPT); and (6) 6-phosphogluconate dehydrogenase (PGD) and glyoxalase I (GLO). Each group of systems was typed simultaneously by electrophoresis or isoelectric focusing (IEF) followed by staining or immunoblotting. These methods are very practical because they afford a considerable saving of time, work and expense, and facilitate semipermanent preservation of electrophoretic patterns.     

Bloodstain characterization in the EAP, Hp, Hb, AK and Glo I typing systems using minigels and the PhastSystem

Application of minigels and the PhastSystem to obtain phenotyping results from bloodstains in the EAP, Hp, AK, and Glo I typing systems was investigated. Nonequilibrium isoelectric focusing with 4-6.5 PhastGel produced readily interpretable phenotypes in the EAP typing system. Both 4-6.5 and 5-8 PhastGel produced AK typing system phenotypes using nonequilibrium isoelectric focusing conditions. The 8-25% PAG PhastGel developed by two staining techniques allowed discrimination of phenotypes for the Hp typing system. Phenotypes from the Glo I typing system were also obtained with this gel type. Variant haemoglobins could be detected on pH 5-8 PhastGel using isoelectric focusing conditions. Much potential for standardized, rapid phenotyping of bloodstains was found to exist utilizing the PhastSystem.     

中国人血清脱氧核糖核酸酶I(DNase I)的遗传多态性研究

应用薄层PAGIF（T=5％，C=3％）结合特异酶底物染色技术，调查了中国随机人群DNaseI遗传多态性的分布，检出在中国人群中两种常见的等位基因，即DNaseI*1和DNasel*2，其基因频率DNaseI*1为0．53，DNaseI*2为0．47。家系分析表明：子代个体谱带分别来自父亲和母亲，谱带在亲代和子代之间的传递符合孟德尔遗传规律。按Hardy－Weinberg法则进行吻合度检验，观察值与期望值一致。人血清DNaseI等电点经测定为4．0。     

用地高辛配基标记的pAW101探针杂交分析DNA多态性及其应用

将NaCl盐析法抽提人基因组DNA与地高辛配基标记DNA探针的方法相结合，检测了15个家系子代与亲代DNApAW101－EcoRI限制性片段的遗传关系。结合所测同工酶（EsD．GLOI．pGM；．Acp）的基因频率、按Essen－moller氏公式计算，父权概率均达到99．73％以上。本法经济、有效、实用、易于在国内普遍实验室开展。     

"New" phenotypes in the human red cell isozyme system ADA

Two rare ADA phenotypes were observed in a German mother and her child. These phenotypes may be due to the allele ADA *9 previously found in Bulgaria.     

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

The distribution of plasminogen phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 1325), the three common phenotypes PLG1, PLG2, PLG2-1 and two further phenotypes PLG1-V and PLG2-V were, observed and the following frequencies calculated: PLG1 = 0.84038; PLG2 = 0.15811; PLGV = 0.00151. These gene frequencies are compared to those found in other populations. Analysis of 41 mother-child pairs was in agreement with an autosomal codominant inheritance.     

北京地区人群(汉族)人血清备解素因子B分布频率的调查及其在血痕中的检出

作者采用琼脂糖凝胶高压电泳、PAGIEF及免疫固定技术测定了北京地区234份健康人(汉族)血清Bf的分布。其表型频率为SS171人,FS49人,FF8人,SS07 4人,FS07 1人及SS045 1人;基因频率为Bf~S=0.8462,Bf~F=0.1410,Bf~(S07)=0.0107,Bf~(S045)=0.0021。Bf表型分布与Hardy-Weinberg定律相吻合。经测定室温保存的已知Bf型的22份血痕,其可检出时限为3周。并将Bf型测定用于检案的血痕分析及亲权鉴定。