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Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medical Microbiology & Immunology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archives of Gynecology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The genetics of human sex determination is considered in view of the various disorders of gonad development. The Y chromosome plays an important role in the induction of sex determination by encoding the testis-determining factor (TDF). However, not all deviations in regular development can be explained by mutations of the TDF as unique factor. Therefore, it is necessary to postulate other mutations in still unknown genes of the cascade for male-specific determination as well as the requirement of an ovary-determining factor for regular female development.

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.

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.

The vitamin-D-binding protein (DBP) also known as group-specific component (GC) is described. This transport protein for vitamin D and its metabolic derivatives has genetic variants which are disclosed by electrophoretic procedures or by isoelectric focusing. Three common and one hundred rare alleles are known. The biochemical, molecular and population genetics are briefly outlined as an example of inherited variability in man.

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.

The low molecular weight protein beta2-microglobulin can be isolated from urine and other biological fluids. There is structural homology of beta2-microglobulin with the immunoglobulins, in particular to the CH3 domaine of the IgG molecule. Beta2-microglobulin can be detected on the cell membrane of most cell types and is associated with the histocompatibility antigens in a non-covalent binding. The immunological function of beta2-microglobulin is unclear. Antibody against beta2-microglobulin inhibits the mitogen- and antigen induced lymphocyte proliferation as well as responder and stimulator cell function in the mixed lymphocyte culture. The lack of structural polymorphism of beta2-microglobulin argues against a direct receptor function. It is more likely that beta2-microglobulin exerts a receptor-coordinating effect on the various receptor systems.