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Physical mapping of the human X chromosome

Crollius, Hugues Roest; (1997) Physical mapping of the human X chromosome. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Abstract

The genetic analysis of the human X chromosome has evolved considerably since the beginning of the Human Genome Project. The involvement of the X chromosome in sex determination and its particular inheritance pattern are in a large part responsible for the strong interest that has motivated this progress. This thesis describes the construction of a physical map of the X chromosome in YAC clones, important as a prerequisite to a deeper analysis of its gene content. As part of this work, some technological developments were investigated with the aim of accelerating the rate of data generation. Different hybridisation systems were assessed with radioactive and non-radioacttive labels, and with different supports for binding the target DNA. A new method was implemented to determine or confirm overlaps between YAC clones, which made use of a library of X chromosome Alu-PCR products. Ultimately a large and heterogeneous set of experimental results was analysed manually and with the assistance of computer software, resulting in a YAC contig map covering the majority of the X chromosome. As part of this project, and in the wider context of the construction of a reference YAC collection for the X chromosome community, a database was developed to handle and distribute the information. The first implementation of this Integrated X chromosome Database (IXDB) was performed using the ACEDB software, and was mostly used internally to assist in the YAC map construction. The first version of the YAC map was publicly released in this system. In a second phase, IXDB was transferred to the ORACLE relational system to provide a more sophisticated and comfortable interface to the World Wide Web and a more robust data management system.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Physical mapping of the human X chromosome
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Biological sciences; Chromosomal mapping
URI: https://discovery.ucl.ac.uk/id/eprint/10099946
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