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Title: Physical and genetic mapping of the RP3 X-linked retinitis pigmentosa locus
Author: Hardwick, Lee Joyce
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1995
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Prior to this study a 360 kb YAC was isolated, Y263, which was found to contain the proximal and distal limits of the RP3 region and, therefore, should contain at least part of the gene. In this study, Y263 was used to improve the physical and genetic characterisation of the RP3 region. Y263 was successfully targeted, with a vector containing a neomycin resistance gene, into the CYBB gene which defines the distal limit of RP3. The neomycin resistance gene provides the selection required to insert the YAC into a mammalian cell line. This derivative YAC has also been mapped using rare cutting restriction enzymes and PFGE. Insertion of the vector increased the size of Y263 and thus enabled it to be separated from yeast chromosome III by PFGE. The ability to isolate Y263 by PFGE is useful for many applications. Y263 has also facilitated genetic mapping of the RP3 region. A novel technique using biotin and streptavidin selection has been used to clone a new microsatellite repeat (JL152) from the YAC. JL152 is highly polymorphic, 8 alleles having been identified to date, and it has a heterozygosity value of 0.76. Sequence analysis has shown that JL152 is located in intron 5 of the CYBB gene. JL152 was shown to be tightly linked to RP3 giving a maximum likelihood lod score of 7.8 at a recombination fraction of zero. This new marker provides additional information for presymptomatic diagnosis and has proved useful in classifying X-linked RP families at RP3 or RP2 (the other X-linked RP locus localised to the short arm of the X chromosome).
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available