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W Patutschnick

Publications and source records attributed to W Patutschnick.

12 recordsLinked to original sources

Serum protein polymorphisms in Arab Moslems and Druze of Israel: BF, F13B, AHSG, GC, PLG, PI, and TF.

We report results of typing two population samples, Israeli Arab Moslems and Arab Druze, for seven serum protein genetic variants. Data are presented in comparison with results for the same markers in a sample of Jordanian Arabs. In Israeli Moslems gene frequencies for BF (n = 169) were BF*S = 0.6361, BF*F = 0.3343, BF*S07 = 0.0296, and BF*1 = 0, and for TF (n = 90) the gene frequencies were: TF*C1 = 0.7167, TF*C2 = 0.2611, and TF*C3 = 0.0222. Allele frequencies for AHSG in Israeli Moslems (n = 155) and Druze (n = 192) were AHSG*1 = 0.9129 and 0.8750 and AHSG*2 = 0.0806 and 0.1250, respectively. Gene frequencies for PLG in Moslems (n = 149) and Druze (n = 190) were PLG*A = 0.4597 and 0.5288 and PLG*B = 0.5101 and 0.4188, respectively. The typing of Israeli Arab Druze (n = 194) for F13B resulted in F13B*1 = 0.8454, F13B*2 = 0.0387, F13B*3 = 0.0979, and F13B*4 = 0.0180. Results on the same population for PI (n = 192) were PI*M1 = 0.7839, PI*M2 = 0.1276, PI*M3 = 0.0781, PI*M4 = 0.0026, and PI*M5 = 0.0026. Observed rare alleles in various systems indicate gene flow from Europe, Africa, and Asia into the Middle East. The results on Arab populations were considered in relation to available population data in the three adjacent continents. The emerging gene frequency profile for Arabs seems to fit with the central geographic and climatic position of the Middle East.

Adolescent↗

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.

Alleles↗

Improved resolution of PI (alpha 1-antitrypsin) phenotypes by a large-scale immobilized pH gradient.

PI variants and PI M subtypes were examined by isoelectric focusing in a preformed immobilized pH gradient. Conditions were found that permit reliable classification of PI variants and of most PI M subtypes: the pH gradient ranges from 4.3 to 4.8 on a polyacrylamide gel with a length of 20 cm and a separation distance of approximately 16-17 cm (delta pH = 0.025 U/cm). The PI phenotypes observed are presented.

Humans↗

Isoelectric focusing with immobilized pH gradients for the analysis of transferrin (Tf) subtypes and variants.

The human serum transferrin (Tf) system was analyzed by isoelectric focusing (IEF) with immobilized pH gradients. For the demonstration of the genetic variability the Fe1-Tf region was chosen. The pH range suitable for analysis of the Tf system was pH 5.20 to pH 5.75. The phenotypes of the common six TfC subtypes are described. No further heterogeneity among TfC1, TfC2, and TfC3 was noted. Aslo presented are the phenotypes of the TfC6 subtype, and of three different TfB and three different TfD variants. IEF with immobilized pH gradients appears to be a suitable method for the analysis of the inherited transferrin polymorphism.

Acrylic Resins↗

Alpha1-antitrypsin: evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany.

Subtypes of the protease inhibitor (Pi) alpha 1-antitrypsin were determined in sera from 752 unrelated individuals from Southern Germany. By isoelectric focusing nine common PiM subtypes were distinguished and several rare Pi variants were observed. Family studies confirm the existence of a fourth PiM suballele. The frequency of PiM4 was found to be 0.018. A survey of the distribution of Pi alleles is given; the application of Pi subtyping in cases of disputed paternity is discussed.

Adult↗

Neuraminidase treatment reveals sialic acid differences in certain genetic variants of the Gc system (vitamin-D-binding protein).

Common and rare Gc phenotypes were analyzed by agarose gel electrophoresis immunofixation and by isoelectric focusing immunofixation before and after neuraminidase treatment. There is a difference between Gc types with double-band and with single-band patterns. Neuraminidase affects only Gc types with a double-band pattern: The double-band pattern is reduced to a single-band pattern. The anodal band disappears after removal of sialic acid by enzymatic cleavage; the cathodal band remains unchanged in its position and becomes stronger. Single-band Gc phenotypes remain unaltered after neuraminidase treatment.

Carrier Proteins↗

Different phenotypes of the group-specific component (Gc) in chimpanzees.

The group-specific component (Gc) was examined in a sample of 78 chimpanzees (Pan troglodytes). With isoelectric focusing followed by immunofixation, two different phenotypes are observed. They both differ from the Gc types observed in man. Two alleles are postulated, one coding for a double-band component, the other coding for a single-band component. Neuraminidase experiments indicate the presence of sialic acid in the anodal component of the double-band pattern.

Alleles↗

Inheritance of PiM subtypes. A study of 151 families with a total of 242 children and of 142 mother-child pairs.

Pi phenotypes were classified by isoelectric focusing in sera of 151 families with a total of 242 children and in sera of 142 mother-child pairs. The six common subtypes of PiM are genetically determined by three alleles named PiM1, PiM2, and PiM3. No exceptions to the postulated mode of inheritance have been found. The possibility of further heterogeneity of the intermediate variant PiM3 is discussed.

Alleles↗

Genetic studies on the Gc subtypes.

Gc subtypes were determined by immunofixation isoelectric focusing. In a family study involving 93 families with a total of 176 children, a three-allele model with six genotypes was confirmed. The distribution of Gc subtypes was studied in three populations from Europe and in a sample of Druzes from Northern Israel. Three new variant Gc types were observed.

Alleles↗

The vitamin D binding of the common and rare variants of the group-specific component (Gc). An autoradiographic study.

The vitamin D3 binding properties of the common and rare Gc variants were examined. Vitamin D3 labeled with 14C was added to serum. Gc phenotypes were demonstrated autoradiographically following separation by immunofixation electrophoresis on agarose. This qualitative analysis did not reveal differences in vitamin D3 binding by the group-specific components of the common types Gc 1-1, Gc 2-1, and Gc 2-2. The double-band variants Gc Darmstadt, Gc Y/Ab, Gc Toulouse, Gc Norway, and Gc Caucasian were examined; the phenotypes Gc Ab-Ab, Gc Ab-1, Gc Ab-1, Gc Ab-2, Gc T-1, Gc T-2, Gc Norw-2, and Gc 1-Cau showed normal D3 binding. The double bands of Gc Darmstadt in the phenotype D-2 appeared somewhat weak. The single-band mutants Gc Wien, Gc Chippewa, Gc Opava, and Gc Z were analyzed; the phenotypes Gc W-1, Gc W-2, Gc Chip-1, Gc Chip-2, Gc 1-Op, Gc Op-2, Gc 1-Z, and Gc 2-Z showed normal D3 binding. A mutant in the Gc system with clearly defective vitamin D3 binding properties remains to be delineated.

Alpha-Globulins↗