Molecular characterization of a pericentric inversion of chromosome 3 in a 3-generation family with short stature [Elektronische Ressource] / von Dutta Usha Rani

"Molecular characterization of a pericentric inversion of chromosome 3 in a 3-generation family with short stature" Dissertation zur Erlangung des akademischen Grades doctor rerum naturalium ( Dr. rer. nat.) vorgelegt der Naturwissenschaftlichen Fakultät I Biowissenschaften der Martin-Luther-Universität Halle-Wittenberg von Frau Dutta Usha Rani geb. am: 17.9.72 in Chirala (India) Gutachter 1. Prof. Ingo Hansmann 2. Prof. G. Reuter 3. Prof. Broinitz Halle (Saale), den 04.03.2008 urn:nbn:de:gbv:3-000013440[http://nbn-resolving.de/urn/resolver.pl?urn=nbn%3Ade%3Agbv%3A3-000013440]Contents i Contents Contes i Abreviatons viii 1. Introduction 1 1.1 Structural abnormalities 1 1.1.1 Chromosomal rearrangements as tools for disease gene 1 identification 1.1.2 Mechanism of inversion 3 1.2 The Human Genome Project 4 1.2.1 Identification of human disease genes 7 1.3 Subject of the study 8 1.4 Possible causes of short stature 9 1.5 Insights into some common inversions involving 3q26 11 1.6 Chromosome 3 and short stature 12 1.7 Aim of the study 13 2. Materials and Methods 14 2.1 14 2.1.1 Reagents 2.1.2 Enzymes 17 2.1.3 Antibiotic stocks 18 2.1.4 Buffers and stock solutions 18 2.1.5 Media 23 2.1.6 DNA Molecular weight standards 24 2.1.7 Vectors 25 2.1.