A modified electrophoretic system for the determination of C4 polymorphism has been found with which the new allotype F1 could be detected. The system has been applied to the population distribution of C4 in 266 unrelated Germans, further to association and linkage studies. Gene frequency was 0.3985 for C4F, 0.5526 for C4S and 0.0489 for the rare C4 genes. In the population sample, significant association between Bf and C4 but no indication for close association between C4 and GLO I has been found. In the families HLA, Bf and C4 segregated together.

Complement C4↗

PubMed1978

GLO I and Bf phenotype distribution in a West German population sample.

GLO I phenotypes were determined in 1,075 unrelated West German individuals by starch gel electrophoresis. Gene frequencies were 0.4512 for GLO1 and 0.5488 for GLO2. Association studies between GLO I and Bf in 985 individuals of which Bf phenotypes were known from previous reports gave no significant evidence for close association between the two systems.

Adult↗

PubMed1978

[Gastrointestinal diseases with microbial etiology].

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Anti-Infective Agents↗

PubMed1978

The nomenclature of properdin factor B allotypes.

In a comparative study the presently known eleven allotypes of properdin factor B (Bf) were examined. Bf polymorphism consists of the two common alleles F and S, the two less common alleles F 1 and S 1 and seven further rare alleles. A variant designation has been proposed according to their relative electrophoretic mobility in comparison to the migration difference between the S and F 1 band. There rare variant alleles were redesignated: F 1.55, SO.45 and SO.7, which previously had been described as F 1.6, S 0.8 and S 1, respectively. Conversion studies did neither reveal variant mobility in the Bb nor in the Ba fragment of factor B in three of the rare alleles. This finding confirms the earlier report on one of the variants, possibly suggesting the existence of a so far unknown third clearing fragment.

Alleles↗

PubMed1977

No evidence for linkage disequilibrium between Bf and GLO in African negroids.

A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was no evidence for a linkage disequilibrium. This result is discussed in terms of the linkage relationships and map distances of the genetic markers involved.

Alleles↗

PubMed1977

Occurrence of Su in a German family.

Investigating a paternity case we observed a pretended opposite homozygosity of the S and s alleles between a mother and her child. The presence of the rare allele Su in this family could be demonstrated with the aid of dosage studies and blood group testing of the mother's parents. 22 additional genetic marker systems, including the HLA-system were examined, a biostatistical calculation was performed as well. The results obtained from these testings were in accordance with the hereditary rules and the posssibility of ilegitimacy or of children's substitution could be excluded. Only Caucasoid ancestry was known to the family. In addition, family members showed another rare blood group marker, the allele GPT0.

Alleles↗

PubMed1977

Inheritance of cis-AB in three generations (family Lam.).

In a case of disputed paternity genetic incompatibility was observed in the ABO blood group system between mother (O) and child (AB). From biostatistical evaluation of 21 genetic markers, including HLA phenotypes, a high value of probability for paternity, maternity and parentage was found between the child, the child's mother, the accused man and his mother. Substitution of the newborn was thereby excluded. The serostatistical evaluation of maternity and paternity could be supported by anthropological opinion. In serological investigations of the ABH system the A and B antigens of the 'A2B' cells were found to be abnormal in the child, the child's father, and the father's mother: the A was weaker than normal A1 but stronger than normal A2; the B was found to be abnormal which in addition was documented through occurrence of irregular anti-B antibodies in the child. In comparison to normal controls (A1, A2, B, A1B, A2B) diminished activity of alpha-D-N-acetylgalactosamine and alpha-D-galactosyltransferase were observed in the three 'A2B' propositi. These facts confirmed the existence of a cis-AB gene in the Lam. family which the child inherited from her father and the child's father from his mother. Assuming a population frequency of 1.1 X 10(-5) for the cis-AB gene, the probability for paternity was calculated from all genetic markers to be W = 99.9999985%.

ABO Blood-Group System↗

PubMed1976

Polymorphism of properdin factor B in South African Negroid, Indian and Colored populations.

Properdin factor B phenotypes were determined in 7 Bantu speaking Negroid populations, 1 Indian, and 1 Colored population of South Africa in a total of 1258 individuals. In the Negroid populations allele frequencies were: BfF 0.655, BfS 0.282, BfRARE 0.063, in the Indian population: BfF 0.322, BfS 0.645, BfRARE 0.033, and in the Colored population: BfF 0.513, BfS 0.435, BfRARE 0.052. In addition, 2 so far unknown F alleles and possibly 1 new S allele were discovered.

Black People↗

PubMed1976

C3 polymorphism in polyacrylamide-gel electrophoresis.

C3 polymorphism in polyacrylamide-gel electrophoresis was identified by crossed immunoelectrophoresis using anti-C3/C3c-serum. Through ageing, treatment of sera with cobra venom factor, endotoxin or with neuramindase, polymorphic bands were seen also in a conversion product and antigenically attributed to C3c. Rare phenotypes were observable in native C3 and in C3c.

Animals↗

PubMed1975

Esterase D polymorphism: high-voltage agarose-gel electrophoresis and distribution of phenotypes in different European populations.

Esterase D phenotypes were determined in 1082 non-related individuals from the western region of Germany by agarose-gel electrophoresis. Gene frequencies were compared with previous data and all European populations studied so fare agreed with the Hardy-Weinberg equilibrium. Mean gene frequencies for Europeans are: EsD1 0.8888, EsD2 0.1112.

Electrophoresis, Agar Gel↗

PubMed1975

Properdin factor B (glycine-rich beta-glycoprotein or C3 proactivator)-polymorphism: genetic and biochemical aspects. First application to paternity cases.

Determination of genetic properdin factor B(Bf) polymorphism was carried out in immunofixation electrophoresis. Genetics of factor B were also studied after ageing, conversion with cobra venom and neuraminidase. In population studies the distribution of factor B in a West German population of 1245 non-related individuals was found to be: Bf F 2.73%, Bf FS 28.43%, Bf S 65.38%. Rare phenotypes (F 1F,F 1S, FS 1, SS 1) were seen in 3.46%. In addition a new variant, designated F1.6S, was observed. The application of factor B polymorphism to 68 paternity cases is discussed.

Aging↗

PubMed1975

[Transferrin variants: significance and identification in paternity cases (author's transl)].

Transferrin phenotypes were determined in 3380 sera of unrelated persons of the western region of Germany with 97.60 percent for TfC and 2.40 percent for Tf variants. Identification was achieved by immunochemical means or through autoradiography. Relative mobilities in some variants were measured using Tf B2C (0.7) as reference. Application of Tf variants is demonstrated in paternity cases.

Clostridium perfringens↗