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H Cleve

Publications and source records attributed to H Cleve.

At least 73 records · Page 4Linked to original sources
PubMed1982

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↗
PubMed1982

[Hereditary alpha 1-antitrypsin deficiency and infantile cirrhosis of the liver].

A report on 9 cases of infantile hepatopathy and cirrhosis of the liver respectively in cases of hereditary autosome-recessive alpha 1-antitrypsin deficiency (alpha 1-ATM). The genetic variants of the serum-protease-inhibitor (Pi) alpha 1-antitrypsin (alpha 1-AT) were examined by means of iso-electric focusing (Polyacrylamidgelen). The gene incidence was of the allel PiZ 0,0138 in the 868 blood donors from the Tyrol and was therefore within the range of the PiZ-frequencies seen in other Central-European populations. The other alleles PiM1, PiM2, PiM3, and PiS, point to the incidence of 0.7062, 0.1480, 0.1037, and 0.0225. The patients under observation (9) are homozygote PiZZ, the clinically healthy parents heterozygote PiZM. Risk of repetition in siblings of the patients is 25%. Early indicative symptoms are prolonged jaundice, acholic stools and hepatomegaly. Further developments are the fading of the hyperbilirubinaemia, temporary improvement in the pathological liver values, a freedom of symptoms for different lengths of time in each case, in the case of two patients, finally, decompensated cirrhosis of the liver and death in hepatic coma. The histological picture of the liver tissue shows PAS-positive storage granula in hepatozytes, intrahepatic hypoplasia of the bile duct, cholestasis as well as early cell necrobiosis, fibrosis and cirrhotic transformation. Course and severity of the liver complaint differ greatly, and are independent of the quantitative alpha 1-antitrypsin deficiency revealed, treatment is purely symptomatic.

Child↗
PubMed1981

[Transsexualism and the H-Y antigen].

First reports about incongruous H-Y antigen status in male-to-female and female-to-male transsexuals have been published by us in 1979. Meanwhile H-Y antigen expression was analyzed with the cytotoxicity assay of Goldberg et al. in 61 transsexuals. In 55 cases H-Y antigen status was found discordant with the anatomical, chromosomal and hormonal sex and corresponded to the gender identity of transsexuals. The relative frequency was 0,91. In 33 male-to-female transsexuals 29 were H-Y negative, one was intermediate, three were H-Y positive. In 28 female-to-male transsexuals 25 were H-Y positive, one was intermediate, two were H-Y negative. The new findings of an incongruous H-Y antigen status in genuine transsexuals may lead to new considerations about the pathogenesis of the disease and about the function of H-Y antigen.

Female↗
PubMed1981

H-Y antigen expression in different tissues from transsexuals.

H-Y-antigen expression was analyzed in patients with transsexuality. Peripheral blood lymphocytes and various tissues were examined using the cytotoxicity assay of Goldberg et al. (1971). Peripheral blood lymphocytes from healthy male and female subjects were used as controls as well as tissues from non-transsexual individuals and from male and female C57B1/6J mice. In three female-to-male transsexuals the peripheral blood lymphocytes were H-Y antigen positive. In these patients also their ovaries, uterus, and mammae were found to be H-Y antigen positive. Three male-to-female transsexuals were examined. The peripheral blood lymphocytes in two of these patients were found to be H-Y antigen negative. Their testes were also H-Y antigen negative, as well as the epididymus, the corpus cavernosum penis, and the cremaster muscle which was analyzed in one of them. One male-to-female transsexual had peripheral blood lymphocytes which were H-Y antigen positive; this patient had testis and corpus cavernosum penis which were also H-Y-antigen positive.

Adult↗
PubMed1981

Gc revisited: six further Gc-phenotypes delineated by isoelectric focusing and by polyacrylamide gel electrophoresis.

Six newly observed Gc variants are described. The variants Gc 1A10, 1A11, 1A12, 1A13, and 1C11 have double band patterns. The anodal bands of these variants are susceptible to neuraminidase treatment. Gc 2A7 is a single band variant which is not altered by neuraminidase incubation. Polyacrylamide gel isoelectrofocusing with immunofixation and polyarcylamide gel electrophoresis appear to be efficient methods for the analysis of the Gc system.

Alpha-Globulins↗
PubMed1981

A previously described serum protein polymorphism in the rat identified as Gc ('vitamin D-binding protein').

The previously published serum protein polymorphisms G1-1 (Moutier, Toyama & Charrier, 1973) and 'tf' (Bender & Günther, 1978) are identical and represent genetic variation at the locus of the vitamin D-binding a-globulin, also known a Gc or group-specific component. The identity was established by comparative protein staining, by functional tests with 14C-vitamin D3, by immunological studies with specific anti-Gc sera and by the strain distribution patterns. The Gc polymorphism in the rat may initiate interesting physiological and genetical studies.

Animals↗
PubMed1980

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

Genetic variation of the protease inhibitor (Pi) alpha 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, Pi less than L, PiL, PiI and PiF. Also, a variant called PiZ1 was found. The frequency of alleles in this sample was PiM1 = 0.6917, PiM2 - 0.1686, PiM3 = 0.0865, PiS = 0.0230, PiZ = 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.

Adult↗
PubMed1980

Classification of transferrin (Tf) subtypes by isoelectric focusing.

A sample of 450 sera from unrelated individuals from Southern Germany was examined by isoelectric focusing on polyacrylamide gels. Three common subtypes, TfC1, C2-1, and C2, were differentiated. In addition, the rare variants TfB1, B1-2, B2, D1, D1-2, D2, and D3 were observed. The frequencies of the Tf alleles in our sample were found to be: TfC1 = 0.8544, TfC2 = 0.1367, TfB1 = 0.0011, TfB1-2 = 0.0022, TfB2 = 0.0045, and TfD1 = 0.0011. Analysis of 73 parents with 73 children did not show deviations from the expected mode of inheritance. Modification of the method by addition of 0.01 M FeCl3 to the sera prior to examination did, however, reveal further variation and permitted the distinction of six subtypes, C1, C2-1, C2, C3, C3-1, and C3-2.

Adult↗
PubMed1980

[Transexuality and X-Y antigen (author's transl)].

Eleven transexuals with transexuality from man to woman and a karotype 46 X-Y and 11 transexuals with transexuality from woman to man and the karotype 46 X-X were investigated for H-Y antigen. Eight of the 46 X-Y transexuals were H-Y antigen negative, one intermediately slightly positive and two H-Y antigen positive. Of the 46 X-X transexuals 9 were H-Y antigen positive, one was intermediately slightly positive and one was H-Y antigen negative. Two groups of transexuals can be distinguished. Genuine transexuals and secondary transexuals with a transvestite past who have suffered a sexual identity crisis due to the environment. The H-Y antigen is an expression of a complex of the genes which is responsible for virilization and is likely located in the Y chromosone. The gene responsible for the H-Y antigen expression is not identical with the inductor for testicular development. An explanation for the disordance of the H-Y antigen findings in transexuals is translocation or gene exchange from a Y-chromosome to an X-chromosome during meisis of the spermatogonia. In this way a morphological substrate for transexuality has been detected. H-Y antigen negative 46 X-Y males and H-Y antigen positive 46 X-X females can now be diagnosed as genuine morphological transexuals.

Environment↗
PubMed1980

Mummies from Peru. Demonstration of antigenic determinants of collagen in the skin.

This paper describes immunofluorescence studies on the possible preservation of antigenic determinants of different types of collagen in sections of the skin of human mummies from Peru. The age of the mummies was dated from the 4th to the 14th century AD. Using specific antibodies, it was possible to demonstrate type I and type III collagen. The antigenic determinants specific for procollagen type I, procollagen type III and the type IV collagen component of basement membranes were not preserved.

Adolescent↗
PubMed1979

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↗
PubMed1979

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↗
PubMed1979

Properdin factor B-polymorphism. An indication for the existence of a Bf O-allele.

The polymorphism of the properdin factor B (Bf, C3-proactivator, GBG = glycin-rich-beta-glycoprotein) has been investigated by high voltage agarose gel immunofixation electrophoresis in 1115 unrelated persons from Southern Germany. Seven phenotypes were observed; the allele frequencies were calculated as BfS = 0.8094, BfF = 0.1790, BfSI = 0.0094, BfFI = 0.0022. A study of 94 parents with 98 children and 420 mother-child combinations showed no deviation from the assumed autosomal codominant mode of inheritance. In one additional family the findings suggested the existence of a silent allele at the Bf-locus.

Alleles↗