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The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics, health care, researchers and the society in general. Genetic causes have a considerable involvement in infertility. Genetic conditions may also be transmitted to the offspring and hence create transgenerational infertility or other serious health problems. Several studies also suggest a slightly elevated risk of birth defects in children born following ART. Preimplantation genetic diagnosis (PGD) has become widely practiced throughout the world for various medical indications, but its limits are being debated. The attitudes towards ART and PGD vary substantially within Europe. The purpose of the present paper was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics and European Society of Human Reproduction and Embryology for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.
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Recent years have seen the rapid development of molecular probes for the detection of defective human genes. These react either directly with the gene in question or with a DNA sequence which lies in close proximity to the gene and which exhibits polymorphism. In the case of haemophilia A two probes were found that belong to the latter category. We have used one of these probes to test its usefulness in the detection of carriers of haemophilia A. For these tests DNA was isolated from blood cells, but can, in principle, be obtained just as easily from other cells or tissues. The results of tests on several families show that the gene technological method is much more precise and sensitive than conventional methods used so far to detect carriers. In all cases a clear assertion was possible as to whether or not the person in question was a carrier of haemophilia A. The method should be applicable to prenatal diagnosis.
Serologic testing for human immunodeficiency virus type 1 (HIV-1) is currently based on enzyme linked immunosorbent assay (ELISA) as screening method. Positive ELISA-results have to be confirmed by at least one second procedure such as Western blotting or immunofluorescence. To obtain new diagnostic reagents for confirmatory testing, we expressed viral antigens in procaryotic systems. Peptides representing epitopes of structural core (gag)- and envelope (env)-proteins of HIV were produced in E. coli as stable immunogenic beta-galactosidase fusion proteins. Recombinant proteins were taken for immunoblot-assays. The results of Western blotting with those fusion proteins were in general comparable with conventional ELISA, immunofluorescence, immunoblot with cell-culture derived virus and commercially available ELISA tests based on recombinant proteins. Immunoblots using recombinant transmembrane protein (gp41) derived polypeptide were more sensitive than the conventional procedure with purified virion proteins. Western blotting with recombinant fusionproteins provide reliable and inexpensive serodiagnostics without handling of infectious cell cultures.
To define more precisely populations in which hemochromatosis is frequent to rare, problems of racial classification are introduced, with particular reference to Europeans and African-Americans. Because the category "Caucasian" includes a multitude of dissimilar peoples, the categories Europeans and European-Americans have been substituted for Caucasian, which is archaic. The background of discrimination in sickle hemoglobin programs for African-Americans are then analyzed, including, discrimination by employers, life insurance, and selective mandatory testing. Discrimination and selective testing of African-American employees of the Lawrence Livermore Laboratory continues today without prior consent, as it has since the 1970s. Dissimilarities between the genetics of hemochromatosis in Europeans and their descendants, Africans, and African-Americans are briefly analyzed. Finally, it is concluded that because hemochromatosis is unlike sickle hemoglobin in that it is potentially preventable and treatable, prevention and treatment principles should apply as in other diseases. Furthermore, because hemochromatosis is so common in European-Americans, discrimination, if practiced, would not be selective for African-Americans.
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In vitro fertilisation (IVF) is now an established treatment for infertility, and therefore preimplantation genetic diagnosis (PGD) has become an attractive diagnostic possibility on embryos at risk of having serious genetic and chromosomal abnormalities. PGD enables screening of certain genetic and chromosomal abnormalities before a pregnancy is established. In Denmark, The Minister of Health has in a recently proposed law on assisted reproduction recommended the implementation of pre-implantation genetic diagnosis on pre-embryos at risk of having serious genetic disorders. The aim of this review is to summarize international experience with the method and discuss its advantages and disadvantages. We conclude, that it is too early to implement the method as a routine clinical diagnostic analysis in Denmark, and that further research on the reliability of the method, the economy as well as other alternatives is recommended.
One-way mixed lymphocyte culture (MLC) tests were performed among the members of five chimpanzee harems in all possible combinations: parents, parent-child, siblings and half-siblings. The technical aspects of MCL testing in chimpanzees appeared to be very similar to those observed for human and rhesus monkey MLC's. Two unexpected observations were made for which no satisfactory explanation can as yet be give: firstly, the occurrence of animals with consistently high autologous values and secondly, the existence of chimpanzees displaying low MLC responsive. The high autologous values occurred mostly in older imported animals (25% with high autologous values), while only one of the 45 laboratory born animals showed this phenomenon. Low responsiveness occurred in a few offspring belonging to a single harem only and is therefore likely to be genetically controlled but, as it appeared, not by genes linked to ChLA. Data suggesting the existence of an MHC-linked "major MLC" or D locus were confirmed and extended. A gene dose effect for D locus antigens was demonstratable, i.e., combinations of related animals differing for one showed lower MLC responses than combinations differing for two ChLA haplotypes. The number of D locus alleles was estimated to be 10.