Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Biologie und Biochemie des Elements Selen

The importance of selenium as an essential trace element has progressively emerged during the last years due to the analysis of selenium deficiency diseases and to the identification and characterization of a number of selenoenzymes. Selenium is incorporated in the catalytic site of the enzymes as an integral selenocysteine residue. The pathway of selenocysteine biosynthesis and incorporation has been elucidated recently for Escherichia coli. This article presents an overview on these subjects and describes the mechanisms which confer selenocysteine specificity in the framework of protein biosynthesis. In addition, some considerations concerning the phylogeny of selenocysteine incorporation are presented and a model for the evolution of the selenocysteine pathway is proposed.     

Pattern Formation in Hydrozoa

Hydra   is famous for its ability to regenerate missing structures. Even aggregates of single cells transform eventually into normally shaped animals. This indicates a communication within the tissue and within the aggregates which determines the spatial pattern of gene expression. Such pattern-forming systems are thought to play a decisive role in the control of self-organization during embryogenesis. Marine and fresh water hydrozoa appear to allow an access to such a system. Although the molecular components are still mostly unknown, the regulatory properties of the pattern-forming system are increasingly well understood, and this may help eventually to identify the components involved.     

Native fluorescence of unstained cryo-sections of the cervix uteri compared with histological observations

The excellent technical assistance of H. Führer and I. Leib is appreciated. Part of the work was supported by the Bundesministerium für Forschung und Technologie, the Deutsche Forschungsgemeinschaft, the Fonds der Chemischen Industrie, and from the Leitz and Hoechst companies. This paper is part of the M. D. thesis of Ch.L.