Indikation fuer eine Chromosomenanalyse nach Chorionzottenbiopsie aufgrund von Ultraschallbefunden Abschlussbericht

Sonographic investigations with real-time-sector scanners were carried out to determine the qualitative parameters structure, extent and density of Chorion frondosum, foetus vitality, cardiac activity, exclusion of abnormalities and disturbance of development. In the chorion biopsy investigation comparative morphological, histological, cytological, cytogenetical and pathological analyses were carried out, and for the evaluation of different forms of morphological changes a classification scheme has been developed. For chromosome diagnostic all current bond techniques (GTG, QFQ, RBA, CBG, DA/DAP, NOR) have been used. Results are compared with findings on other sematic cell systems. (WEN)Available from TIB Hannover: F94B0889+a / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEBundesministerium fuer Forschung und Technologie (BMFT), Bonn (Germany)DEGerman

Zystennieren im Kindesalter Entwicklung und Reifung des chronisch kranken Kindes. Abschlussbericht

SIGLEAvailable from TIB Hannover: F95B2430+a / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung, Wissenschaft, Forschung und Technologie, Bonn (Germany)DEGerman

Robert�A.�Weinberg � All experimental work was done at the:

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Molekulargenetische Analyse der Androgenresistenz und des Hyperandrogenismus Abschlussbericht

SIGLEAvailable from TIB Hannover: DtF QN1(73,41) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung, Wissenschaft, Forschung und Technologie, Bonn (Germany)DEGerman

Isolierung und Charakterisierung von Genen fuer Spermienschwanzproteinen und Mutationsanalyse bei Patienten mit gestoerter Spermienmotilitaet (z.B. mit Kartagener-Syndrom) Schlussbericht

The aim of the project was the identification and characterization of human and mouse genes which are important for the motility of the spermatozoa flagella. By the establishment of an animal model, the significance of the genes for male fertility should be proven. cDNA fragments encoding the conserved ATP binding region of dynein heavy chains were amplified, using the polymerase chain reaction and reverse-transcribed human and mouse testis RNA. By Northern-blot analysis, RT-PCR and in situ hybridization experiments, the expression patterns of two of the identified genes (MDHC1 and MDHC7) were determined. While MDHC1 is testis specific expressed, transcripts of the MDHC7 gene were also detected in other tissues. After isolation and characterization of corresponding genomic clones for both genes, knock-out constructs were designed. For the MDHC7 gene heterozygote mice were produced. We hope that homozygote offsprings will give us important hints for the function of dynein genes and also for their clinical significance. During the last period of the project we started to establish a procedure for the diagnostic of infertile men. (orig.)SIGLEAvailable from TIB Hannover: DtF QN1(70,12) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung, Wissenschaft, Forschung und Technologie, Bonn (Germany)DEGerman

Entwicklung und Adaptierung gen-analytischer Methoden an die Erfordernisse der praenatalen Diagnostik Abschlussbericht

In the course of the project new molecular genetic techniques have been developed or adapted to facilitate rapid and reliable prenatal diagnosis. These techniques were in particular tested for detecting defects in the genes coding for phenylalanine hydroxylase, #beta#-globin and the cystic fibrosis transmembrane conductance regulator (CFTR). An important prerequisite for rapid detection of mutations was the development of the polymerase chain reaction and related techniques. For efficient use of PCR-technology exact knowledge of the sequence and mutations of the gene under investigation are nessecary. These data have been determined for all three genes. Detailed analysis uncovered a high heterogeneity of disease causing mutations suggesting that for rapid and reliable prenatal diagnosis linkage analysis is still an indispensable tool. For this type of diagnosis improvement could be achieved by constructing PCR-formats for those polymorphic restriction sites which are highly informative and by use of PCR based analysis of micro satellite markers. (orig.)SIGLEAvailable from TIB Hannover: F95B1589+a / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Forschung und Technologie (BMFT), Bonn (Germany)DEGerman

DNA-Sonden zur Erfassung erblicher Defekte beim Menschen (1-Phase 2B) Abschlussbericht

In this cooperative study approximately 100 DNA probes are described, mapped and provided to the scientific community. Two variants of the micro dissection are developed and tested in order to accelerate the isolation and mapping of chromosome areas of human beings. An especially valuable material for the localization of genes a panel of human being-rodent soma cell hybrides was established and used for innumerable cooperative projects. This collection of hybride cells allows the fast classification of genes to human chromosomes and a regional mapping on the chromosomes 1,2,3,6,7 and X. (MZ)Im Rahmen der kooperativen Studie sind ca. 100 DNA-Sonden beschrieben, kartiert und an die wissenschaftliche Gemeinschaft weitergegeben worden. Zwei Varianten der Mikrodissektion sind entwickelt und erprobt worden, um die gezielte Isolierung und Kartierung von Chromosomenbereichen des Menschen zu beschleunigen. Als besonders wertvolles Material zur Genlokalisierung wurde ein Panel von Mensch-Nager-Somazellhybriden etabliert und fuer zahlreiche kooperative Projekte eingesetzt. Diese Sammlung von Hybridenzellen erlaubt die rasche Zuordnung von Genen zu menschlichen Chromosomen und eine regionale Kartierung auf den Chromosomen 1,2,3,6,7 und X. (orig.)SIGLEAvailable from TIB Hannover: D.Dt.F.AC1000(40,60) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Forschung und Technologie (BMFT), Bonn (Germany)DEGerman

Entschluesselung funktioneller Elemente als Basis zur Entwicklung eines Minichromosomenvektors zur Uebertragung grosser genomischer Abschnitte in Saeugerzellen Schlussbericht

SIGLEAvailable from TIB Hannover: F00B1312 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung, Wissenschaft, Forschung und Technologie, Bonn (Germany)DEGerman

Studien ueber die cytogenetische Wirkung eines 193 nm Excimer-Lasers Abschlussbericht

Available from TIB Hannover: DtF QN1(50,8) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEBundesministerium fuer Forschung und Technologie (BMFT), Bonn (Germany)DEGerman

Hepatitis-B-Verbund. Analyse der Nukleinsaeuresequenzen des Hepatitis-B-Virus im Rahmen von Infektketten und verschiedenen Infektionsverlaeufen Schlussbericht

Available from TIB Hannover: DtF QN1(81,9) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEBundesministerium fuer Bildung und Forschung (BMBF), Bonn (Germany)DEGerman