A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was conditional on written informed consent. Of those invited to participate, only one refused to be tested, on the grounds of non-acceptance of prenatal diagnosis. Eighteen pregnant women were identified as carriers of the delta F508 mutation. All of them and their male partners accepted counselling in which the genetics of CF, its prognosis and treatment were explained, with emphasis on the meaning of heterozygosity, the fact that carriers are healthy, and the risk of an affected fetus when only one parent is identified as a heterozygote. All partners agreed to be tested for the delta F508 R553X and G551D mutations and a second counselling session was carried out after this test result was available. No problems were observed during initial testing but, as in other studies, we found considerable anxiety on being given the result in all couples where the woman tested positive; this was reduced substantially by counselling and when the partner tested negative. All probands found to be carriers stated that they found screening acceptable. In contrast to the cautious statement by the German Berufsverband Medizinische Genetik and the hostile reaction from a representative of the CF self-support organisation towards community-based heterozygote screening for CF, this study shows that CF screening is generally acceptable in this German population and that it is actively taken up by most pregnant women when offered.
<i>Hibiscus hamabo</i> (Malvaceae) is a deciduous shrub mainly found in northeast Asia, including China, Japan, and Korea. Due to its limited distribution on Jejudo Island and at several sites in Jeollanam-do in Korea, <i>H. hamabo</i> has been designated as an endangered species by the Ministry of the Environment and has been the subject of several restoration programs. In this study, we quantified genetic variations using double-digestion restrictionassociated DNA sequencing technology in 96 individuals of <i>H. hamabo</i> from 13 distinct populations in Korea. We determined 3,352 genome-wide single nucleotide polymorphism loci after stringent filtering processes and analyzed the level of genetic variation within and among populations as well as the population differentiation and genetic ancestry with various assumptions pertaining to the population origin. Our results indicated weak differentiations among populations surveyed in this study but clearly suggested that most of the <i>H. hamabo</i> populations maintain a relatively high level of genetic diversity as evidence of frequent genetic exchanges among populations via outcrossing or sequential gene flows. For a more detailed analysis of the origin of Korean <i>H. hamabo</i> and its demographic history, it will be necessary to expand sampling in China and Japan.
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