Esterase D polymorphismus: Phänotypenverteilung und genfrequenzen in Norddeutschland (Schleswig-Holstein)

Zusammenfassung Die Bestimmung der EsD-Phänotypen in einer norddeutschen Population (n=1088) ergab folgende Allelenhäufigkeiten: EsD¹ = 0,902574; EsD² = 0,097426. Die Streubreite beträgt ±0,006357. Seltene Phänotypen wurden nicht beobachtet. Familienuntersuchungen bestätigen den angenommenen autosomal kodominanten Vererbungsmodus. Beim Vergleich mit anderen deutschen Veröffentlichungen ergaben sich keine signifikanten Unterschiede.

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Esterase D polymorphism: Phenotype- and gene frequencies in Northern Germany (Schleswig-Holstein)

Summary Esterase D phenotypes were determined in a population sample of Northern Germany (Schleswig-Holstein) by starch gel electrophoresis. The gene frequencies in 1088 unrelated individuals were calculated with 0,902574 (±0,006357) for EsD¹ and 0,097426 (±0.006357) for EsD²; rare phenotypes were not observed. Family investigations support the assumed modus of autosomal codominant inheritance.

     

Esterase D phenotypes in north-eastern Japan

Summary Esterase D (EsD) was typed in 2,367 unrelated healthy blood donors from Yamagata and Miyagi districts, north-eastern area of Japan. The gene frequencies observed were: EsD¹=0.642, EsD²=0.358. In these blood donors two rare EsD phenotypes, EsD 3-2 and a new variant, were found. As for this new variant, the mode of hereditary transmission was discussed by family study.     

Populationsgenetische Untersuchung der Esterase D im Lübecker Raum

Zusammenfassung Es wurden 1251 Blutproben nicht-verwandter Personen aus dem Raum Lübeck untersucht. Die Genfrequenzen sind für EsD¹ = 0,9001 und EsD² = 0,0999.     

Red cell esterase-D-polymorphism in the Veneto population

Summary 630 individuals and 102 mother/child pairs from the Veneto provinces were examined for their red cell EsD by Cellogel electrophoresis. Compared with the horizontal starch-gel electrophoresis no differences in the zymogram patterns have been found.The gene frequencies observed (EsD¹=0.8556; EsD²=0.1444) differ only slightly from those reported for various European populations and are nearly identical with data for other Italian populations.Family studies confirmed the Mendelian co-dominant inheritance.     

Forensischer Anwendungsbereich und Populations-genetik der Enzympolymorphismen esterase D und glyoxalase I

Zusammenfassung Die Phänotypen der Esterase D und der Glyoxalase wurden elektrophoretisch in Stichproben nicht verwandter, erwachsener Personen im Hamburger Raum bestimmt. Genfrequenzen: EsD¹=0,889 (n=1430); GLO¹=0,415 (n=865). Die Untersuchung von 295 (EsD) bzw. 153 (GLO) Mutter/Kind-Paaren erbrachte keine Abweichung vom Modell jeweils zweier kodominanter Allele an einem autosomalen Genort. Zum Nachweis in Blutspuren erscheint die Esterase D nur in sehr frischen Spuren geeignet.Ausführlich werden Fragen des forensischen Beweiswerts von Enzympolymorphismen diskutiert. Unter Berücksichtigung der bisherigen Familiendaten sollte sowohl für die Esterase D wie auch für die Glyoxalase bei klassischer Ausschlußkonstellation ein höchstmöglicher Sicherheitsgrad erreicht sein.     

Plasma protein and red cell enzyme groups in Galicia (North West Spain)

Summary Galactose-1-phosphate uridyl transferase (GALT), esterase D (EsD), and plasminogen (PLG) phenotypes were determined by isoelectric focusing in thin-layer polyacrylamide gels (PAGIF) in a random sample from Galicia. Haptoglobins (Hp) were determined by conventional electrophoresis. The following gene frequencies were observed: for GALT: GALT^N: 0.930; GALT^D1: 0.044; GALT^D2: 0.025; for EsD: EsD¹: 0.874; EsD²: 0.104; EsD³: 0.021; for PLG: PLG¹: 0.800; PLG²: 0.199; for Hp: Hp¹: 0.426; Hp²: 0.573. Population data results of all electrophoretic markers typed until now in Galician population are also included.Supported in part by grant no. 2654/83 from the Comisión Asesora de Investigación Científica y Técnica (Ministerio de Educación y Ciencia)     

Untersuchungen zum Polymorphismus der intraerythrocytären Esterase D (Es D) mittels Hochspannungselektrophorese auf Agarosegel

Zusammenfassung Es wird über eine neue, verbesserte Methode zur Darstellung des Polymorphismus der intraerythrocytären Esterase D (Es D) berichtet. Die Hochspannungsdünn-schichtelektrophorese auf Agarosegel erlaubt eine sichere Differenzierung der drei Isoenzymmuster. Die Allelhäufigkeiten bei einer 510 Personen umfassenden hessischen Population betragen: Es D¹ = 0,8882, Es D² = 0,1118; seltene Varianten wurden bisher nicht beobachtet. Familienuntersuchungen bestätigen den angenommenen autosomal kodominanten Vererbungsmodus.

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Investigations on the polymorphism of red cell esterase D by high voltage agarose gel electrophoresis

Summary An improved method for the demonstration of polymorphism of red cell esterase D (Es D) by means of high voltage agarose gel electrophoresis is described. The three isozyme patterns can by distinguished clearly. The allele frequencies in 510 unrelated individuals from Hessen/Germany are. Es D¹ = 0.8882, Es D² = 0.1118; rare phenotypes were not observed thus far. Family investigations support the supposed way of autosomal codominant inheritance.

     

Populationsgenetische Untersuchung des Esterase D (EsD)-Erythrozyten-Isoenzymsystems bei der Bevölkerung der Umgebung von Szeged (Süd-Ungarn)

Zusammenfassung Die Verfasser haben in den Blutproben von 1480 aus der Population von Szeged und Umgebung (Süd-Ungarn) stammenden unausgewählten und miteinander nicht verwandten Personen und anhand von 159 Mutter-Kind-Blutproben mittels horizontaler Stärkegel-Elektrophorese die Genhäufigkeit des EsD-Enzympolymorphismus und die Verteilung der Phänotypen untersucht. Die EsD-Genfrequenz erwies sich als EsD¹=0,8973 und EsD²=0,1027, und die Phänotypenverteilung betrug: EsD 1-1: 80,74%; EsD 2-1: 11,97%, EsD 2: 1,28%. Die erhaltenen Genfrequenzen entsprechen den bei den kaukasoiden Völkern gefundenen Genfrequenzwerten. Eine Abweichung von dem beim EsD-Enzymsystem festgestellten Erbgang haben sie in ihrem Untersuchungsmaterial nicht beobachtet.     

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing

Summary 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; PLG^V=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.The results were partially communicated at the 11^th International Congress of the Society of Forensic Hemogenetics, Copenhagen 1985     

Properdin factor B-polymorphism in the population of Hessen,Germany

Summary The polymorphism of properdin factor B (Bf, C3 proactivator) in a population sample from Hessen, Germany has been investigated by agarose gel electrophoresis and immunofixation. In 522 unrelated individuals seven different phenotypes were observed and the following allele frequencies calculated: Bf^S=0.7998, Bf^F=0.1772, Bf^S0.7=0.0163 and Bf^F1=0.0077. Investigations of 100 families with 198 children and 30 mother-child combinations support the assumed autosomal codominant way of inheritance.     

天然高本底辐射对人群外周血淋巴细胞染色体畸变率影响的Meta分析

目的 用Meta分析方法综合评估长期天然高本底辐照对人群外周血染色体畸变率的影响. 方法 检索国内外相关中英文数据库文献,并按照事先定义的纳入和排除标准,剔除不符合要求的文献,对纳入文献采用Meta分析方法进行综合定量分析,对9篇有染色体畸变率的研究进行综合分析,其中,2篇为单独报道易位率,2篇为单独报道非稳定性畸变率,综合报道的5篇.高本底辐射组研究总人数17 777人,对照组总人数10 386人.用Stata 12.0进行分析,Q检验和I²检验反映异质性的大小,发表偏倚用漏斗图法、Begg秩相关和Egger线性回归法识别. 结果 长期居住于天然高本底辐射地区的居民外周血染色体易位率和非稳定性畸变(双着丝粒+环状染色体、断片)率高于对照地区,其OR和95%CI分别为:1.57(1.10,2.24)和2.04(1.32,3.14);对易位率影响的研究中,男性、女性、成人和中国地区的OR和95%CI分别为1.24(1.09,1.42)、1.37(1.17,1.60)、1.17(1.05,1.30)、1.38(1.25,1.51),异质性检验I²分别为0.00、0.00、69.50%和0.00;对非稳定性畸变率影响的研究中,女性、成人、儿童、伊朗和中国地区的OR和95%CI分别为3.78(2.40,5.97)、2.60(2.25,3.00)、1.03(0.85,1.24)、3.19(2.46,4.13)和1.64(1.33,2.02),异质性检验I²分别为:0.00、69.60%、0.00、21.60%和0.00;高本底辐射、性别和年龄是上述异质性的来源. 结论 长期暴露于天然高本底辐射会增加外周血淋巴细胞染色体易位率和非稳定性畸变率,应综合分析其对高本底辐射暴露人群产生的健康风险,为建立防护措施和出台相关政策提供科学依据.     

Gc subtypes determined by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

Summary The distribution of Gc phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n=732) the six common phenotypes, Gc1S, 1F, 1S1F, 2, 2-1S, 2-1F and a further phenotype, Gc1S1C3, were observed and the following frequencies calculated: Gc1S=0.560792; Gc1F=0.159153; Gc2=0.277323; Gc1C3=0.002732. Our gene frequencies have been compared with those found in other populations.Finally supported by the Ministry of Education of Italy     

Gene frequencies of red-cell uridine-5-monophosphate Kinase (UMPK) in Western Germany (Düsseldorf region)

Summary Uridine-5-monophosphate-kinase was determined by starch gel electrophoresis on samples of 711 unrelated individuals. The following gene frequencies were observed: UMPK¹ = 0.9550 and UMPK² = 0.0450.     

PGM 1 a subtyping in Western Germany (Düsseldorf Region)

Summary Phosphoglucomutase (PGM ₁ ^a ) subtypes were determined by isoelectric focusing on samples of 496 unrelated individuals. Ten phenotypes were observed as gene products of four alleles at the PGM₁ locus, with the following gene frequencies: PGM ₁ ^a1 =0.631, PGM ₁ ^a2 =0.194, PGM ₁ ^a3 =0.126, and PGM ₁ ^a4 =0.049. A rare phenotype PGM₁ (8-a2) was observed.     

Isoelectric focusing studies on the PGM1 subtypes in the northern Japanese population

Summary The distribution of the human red cell phosphoglucomutase (PGM₁) subtypes in samples from Japanese population (n=277) living in the Miyagi Prefecture, the northern part of Japan, was investigated by applying the thinlayer polyacrylamide gel isoelectric focusing. In our population sample all the ten common phenotypes were demonstrated, and the estimated allele frequencies for the genes PGM ₁ ¹⁺ , PGM ₁ ^1– , PGM ₁ ²⁺ , and PGM ₁ ^2– were 0.671, 0.107, 0.161, and 0.061, respectively. Family studies (n=40) indicated an autosomal codominant inheritance and confirmed the four alleles. The new system will increase the probability of exclusion in paternity cases among Japanese to 29.4% compared with 14.3% if the two allele system is used.     

Pi subtyping by isoelectric focusing: Further genetic studies and application to paternity examinations

Summary Genetic variation of the protease inhibitor (Pi) a ₁-antitrypsin was analyzed by isoelectric focusing on polyacrylamide gels in a sample of 347 unrelated individuals from Southern Germany. Six common subtypes of PiM were observed as well as the relatively frequent variants PiS and PiZ and the rare variants PiT, PiM1=0.6917, Pi^M2=0.1686, Pi^M3=0.0865, Pi^S=0.0230, Pi^Z=0.0187, and Pi*=0.0115. In 82 families the distribution of Pi types was in agreement with an autosomal codominant mode of inheritance. The application of Pi classification in cases of disputed paternity is discussed.     

Polymorphism of the red cell acid-phosphatase in tuscany by starch-gel thin layer electrophoresis and fluorogenic substrate

Summary The red cell acid-phosphatase types were determined in 495 individuals from Tuscany, Italy.The observed frequencies of the three alleles are: ACP _inf1 ^supA =0.271; ACP _inf1 ^supB =0.665 and ACP _inf1 ^supC =0.064.The results obtained by starch-gel thin layer elcetrophoresis and 4 methyl-umbelliferyl-phosphate as fluorogenic substrate are very satisfactory for forensic purposes also.     

Factor B subtyping in sera and bloodstains by isoelectric focusing and immunoblotting

Summary The polymorphism of BF was investigated in 765 unrelated Japanese individuals by isoelectric focusing and immunoblotting. Besides five common subtypes three rare variants were observed. The allele frequencies were: BF^*S=0.8078, BF^*FA=0.1797, BF^*FB=0.0105, BF^*Var.=0.0020. The above method was successfully applied to subtyping BF in stored blood-stains. The determination limits were: at 4°C 8 weeks, at room temperature 2 weeks and at 37°C only 2 days after storage. The BF subtyping is of practical use in medicolegal individualization of unknown bloodstains.     

Radiation exposure and patient experience during percutaneous coronary intervention using radial and femoral artery access

The aim of this study was to evaluate radiation dose and patient discomfort/pain in radial artery access vs femoral artery access in percutaneous coronary intervention (PCI). Dose–area product (DAP) was measured non-randomised for 114 procedures using femoral access and for 55 using radial access. The patients also responded to a questionnaire concerning discomfort and pain during and after the procedure. The mean DAP was 69.8 Gy cm² using femoral access and 70.5 Gy cm² using radial access. Separating the access site from confounding factors with a multiple regression, there was a 13% reduction in DAP when using radial access (p=0.038). Procedure times did not differ (p=0.81). Bed confinement was much longer in the femoral access group (448 vs 76 min, p=0.000). With femoral access, there was a significantly higher patient grading for chest (p=0.001) and back pain (p=0.003) during the procedure and for access site (p=0.000) and back pain (p=0.000) after the procedure. Thirty-two femoral access patients (28%) were given morphine-type analgesics in the post-procedure period compared to three radial access patients (5%, p=0.001). DAP does not increase when using radial instead of femoral access and the patients grade discomfort and pain much lower when using radial access. Radial access is thus beneficial to use.     

Apparent diffusion coefficient measurements in the differentiation between benign and malignant neck masses

Aim

Evaluate the role of ADC value measurements in the differentiation between benign and malignant neck masses.

Methods

From April 2011 to February 2013, prospective study was conducted on 30 patients (17 male and 13 female), with the mean age 43.3 ± 6 years. Collected from wards and clinics of General Surgery and Otolaryngology Departments complaining from neck masses. MRI, Diffusion-Weighted Imaging (b value 0, 100, 500 and 1000 s/mm) and ADC value calculation were performed and the results were correlated with histopathological results and/or follow up.

Results

The present study include 30 patients (Lymphadenopathy {(n = 15) (11 as single entity), (4 associated with other entities)}, Focal thyroid swelling (n = 5), Salivary gland masses (n = 3) {Parotitis (1 case), Parotid carcinoma (2 cases)}, Nasopharyngeal masses (n = 5), Oropharyngeal masses (n = 2), Ludwig angina (n = 2) and Laryngeal masses (n = 2).The mean ADC of the malignant neck masses was (0.699 + 0.267 × 10^-3 mm²/s) while that of the benign masses was (1.879 + 0.751 × 10^-3 mm²/s).The results confirmed by biopsy in 23 cases and follow up (7 cases).The sensitivity, specificity, PPV, NPV and overall accuracy of quantitative diffusion WI in differentiating benign from malignant neck masses were 95.4%, 83.3%, 95.4%, 83%, and 92%.

Conclusion

ADC value calculation are promising noninvasive imaging approach that can be used in distinguishing between benign and malignant neck masses. Benign lesions have higher mean ADC values than malignant lesions, the cutoff value was 1.25 × 10^-3 mm²/s while 0.8 × 10^-3 mm²/s in thyroid lesions.