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Biomedical subjects

G Geserick

Publications and source records attributed to G Geserick.

At least 55 records · Page 3Linked to original sources

Factor B (BF) subtyping by isoelectric focusing: methods, nomenclatures, genetics and forensic application.

Usually factor B (BF) typing is performed by means of the traditional agarose gel electrophoresis. Using isoelectric focusing, the system can be extended by two common subtypes of BF F. The existence of BF F subtypes has in the meantime been confirmed by various authors and in different populations. Their inheritance has been proven by family- and mother/child analyses and molecular-genetic studies (correlation with restriction fragment length polymorphism). Different typing methods as well as different nomenclatures seem to indicate that the subtypes FA and FB (according to Geserick et al.) are identical with the Fb and Fa subtypes (according to Teng and Tan). At present, some confusion still exists for the less frequent variants and subtypes which possibly could be identified by direct comparison of the patterns. The BF system is a valuable marker in paternity testing. Its chance for exclusion of paternity in Caucasian populations has been calculated to be about 14% for agarose gel electrophoresis and increases to about 16% for BF F subtyping by isoelectric focusing. Preliminary results indicate that BF may also be used for typing of bloodstains (up to 2 weeks old).

Complement Factor B↗

Distribution of subtypes of the BF system in type 1 (insulin-dependent) and type 2 (non-insulin dependent) diabetes mellitus.

In this study 148 type 1 diabetic patients (mean age: 33 years) and 100 type 2 diabetic patients (mean age: 57.3 years) were typed for BF subtypes by means of isoelectrofocusing in polyacrylamide gel (pH range 5.0-8.0) according to Geserick. The frequencies of BF subtypes and the distribution patterns were compared with 584 blood donors. In type 1 diabetics the distribution pattern of BF phenotype frequencies differs significantly from the data of type 2 diabetics and controls. The difference is mainly due to the frequent occurrence of the rare alleles BFF1 and BFSO7. The frequency of the two alleles amounted to 0.0338 and 0.0270, respectively. The relative risk of carriers of the rare alleles BFF1 and BFSO7 was 5.3 and 6.6, respectively. The study demonstrates a marked association between the early onset of type 1 diabetes (less than 20 years of age) and the BFF1 allele. There is no relationship between the rare variants of alleles of the BF system and the occurrence of proliferative retinopathy. However, there was no association between the rare variants of alleles of the BF system and type 2 diabetes mellitus. In summary, the study add further support for genetic heterogeneity of the BF system in type 1 diabetes mellitus.

Adolescent↗

Recombination within the class III region by a double cross over event.

Analysis of class I, class II, and class III gene products of the human MHC in a Caucasoid family with four children gave evidence for a double crossing over event in monozygotic twins between the C2, Bf/C4A, C4B gene loci. In view of the small genetic distance between C2 and C4, a point mutation within the Bf locus must be considered alternatively.

Crossing Over, Genetic↗

[Distribution of haptoglobin phenotypes in gynecologic tumors].

The haptoglobin types were determined by starch gel electrophoresis in 246 women with benigne and malignant gynaecologic neoplasms or breast tumors. There was a higher Hp1-gene frequency in all investigated patients compared with the normal distribution caused by a significant increase of Hp 1-1 type and a lower rate of Hp 2-2 type. The Hp 2-2 type was lower in the cases with benigne and malignant neoplasms of cervix and cervical carcinomas. The Hp 1-1 type was higher in the group of mamma tumors. A connection between these findings and the immune systems is discussed.

Breast Neoplasms↗

[Demonstration of a "new" BF-variant (BF S Berlin) using isoelectric focusing].

Using the islelectrofucising in polyacrylamide gel for BF typing in the population from Berlin (GDR) a "new" variant was found. This variant is situated cathodically of the BF S line, but it is not detectable by means of agarose gel electrophoresis. Therefore the common BF nomenclature is not applicable. The designation "S Berlin" is proposed. Typing the family of the proposita the same phenotype (S Svar .) was found in the serum of her daughter. This result confirms a codominant inheritance of the new allele. The observed allele frequency is 0.0017.

Complement Factor B↗

Isoelectrofocusing in the study of the Bf system: existence of two common subtypes of the BfF allele.

The inherited polymorphism of the properdin factor B (Bf system) was studied by isoelectrofocusing in polyacrylamide gel (PAGIF, pH range 5.0-8.0), followed by immunofixation. Using the described technique, two different subtypes of F bands are visible (designated as F' and F"). Studies of 13 families and 48 mother-child pairs are not in contradiction to the assumption of a codominant inheritance by two alleles (BfF' and BfF") at a single locus.

Alleles↗

[Identification of subtypes of the Bf system: distribution in a random sample from the population of Berlin (GDR)].

Using isoelectrofocusing in polyacrylamide gel (pH range 5.0-8.0) for the classification of Bf types two different subtypes of F bands are visible. The extended polymorphism is composed of six common phenotypes (Bf F', F'F", F", F'S, F"S, and S). The distribution of Bf subtypes was studied in the population (n = 584) from Berlin (GDR). The allele frequencies observed were: BfF' = 0.0916, BfF" = 0.0753, BfS = 0.8202, BfF1 = 0.0060, BfS0.7 = 0.0043, BfS0.3 = 0.0009, BfSvar(new) = 0.0017.

Alleles↗

[Haptoglobin type and isoantibodies (anti-A and anti-B)].

In 582 sera of blood donors of the groups A1, A2, B and 0 the Hp type as well as the anti-A or anti-B isoantibody titres respectively were determined. The frequency distribution of isoantibody titres in serum samples with different Hp-type were compared. As far as the numerical difference of distribution was concerned there was only one significant observation in the group of B alpha--titres of test persons with a different Hp-type. On the basis of these findings the following Hp-type/isoantibody relation can be established: low anti-A or anti-B titres respectively (approximately 1:8) will occur more frequently in persons with the Hp-type 1-1, higher titres (approximately 1:64) are to be found predominantly in persons with Hp2 genes. These findings are in accordance with other results, on the basis of which is was suggested that persons with Hp2 gene product have a higher immunogenic reactivity in comparison to type Hp 1-1.

ABO Blood-Group System↗

[Prenatal AB0(H) blood group determination of amniotic fluid cells by mixed cell agglutination].

A modification of the mixed-cell agglutination reaction (MCAR) was used in prenatal AB0(H) blood typing of cells obtained from 41 samples of amniotic fluid. The findings are compared with results obtained from the use of the agglutination inhibition test in testing water-soluble AB0(H) substances of amniotic fluid based on the same samples. For prenatal AB0(H) typing, MCAR exhibited advantages over the agglutination inhibition test. Completion of data in this field will provide a good foundation for prenatal detection and identification of hereditary factors which can be linked with gene loci of the AB0 system.

ABO Blood-Group System↗

Immunological aspects of the focus problem and the genetic type of haptoglobin.

The frequency distribution of the genetic type of haptoglobin in adults affected with a long-term tonsillitis conforms with the standard rate of incidence. In case of a chronic tonsillitis with the suspicion of focus Hp 2-2 is underrepresented. A genetic disposition to the focus disorder which is caused by a slighter immune response is discussed.

Gene Frequency↗

[Haptoglobin types and chronic glomerulonephritis].

In 88 patients a chronic glomerulonephritis was diagnosed by histology and immunohistology. The haptoglobin type was also analyzed. The distribution of the haptoglobin types in the sample did not differ from the haptoglobin distribution in the population of Berlin. The distributions of histologic and immunohistologic forms of glomerulonephritis were related to the haptoglobin distribution in our patients. The distribution of histological subgroups does not depend on the distribution of the haptoglobins. In evaluation of the immunohistological subgroups we found that immunocomplexnephritis is less frequent in the group Hp 1--1 than in the groups 2--1 and 2--2. We suppose that persons with Hp 2--1 and Hp 2--2 are prone to increased antibody formation. Hp 1--1 is presumably a blocking antibody.

Antibody Formation↗

Results on forensic application of the C3 system.

The results of the application of the C3 system to 155 cases of disputed paternity are presented. In this preselected material (none of the 234 accused men could be excluded by any of the usual markers of red blood cells and serum) 23 men were excluded. Of these 23 exclusions, 17 could be examined in the HLA-system and were confirmed by this system. In 211 mother-child pairs no theoretically impossible combinations were observed.

Adult↗

[Quantitative determination of alpha-foetoprotein in perinatal medicine. Second communication: Verification of AFP concentration in umbilical cord blood of newborns as an objective parameter for assessment of gestational age (author's transl)].

AFP concentrations were recorded from umbilical cord serum of 482 newborns, with 453 of them weighing more than 2.500 gram and 29 less than 2,501 gram. The AFP values thus found were correlated with the established clinical parameters of gestation, such as birth weight, length, circumference of head, biparietal skull diameter, circumference of chest, and gestationsal age by case history. - The closest correlation between any two of the above selected clinical parameters was found to exist between AFP concentration and gestational age by case history, whereas correlations were least close between AFP and biparietal diameter. Measurement of AFP in umbilical cord blood is considered to be merely a complementary criterion for assessment of gestational age by clinical parameter, because of too large scatter of individual data.

Fetal Blood↗