Centromeric linkage in man

Côté, Gilbert Bernard (1975). Centromeric linkage in man. University of Birmingham. Ph.D.

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The aim of this work is to provide geneticists with appropriate statistical methods and computer programmes for the analysis of human pedigree data in view of mapping genes on the human chromosomes, and discovering the origin of chromosomal abnormalities such as the autosomal trisomies, the 47,XXY Klinefelter's syndrome and the 46,XX men syndrome.
J.H. Edwards' marker algebra is presented in detail as used in his computer programme (MARK III) that analyses linkage with Morton's lod method for normal diploids. The programme is also described with all its specifications.
The cytological mechanisms leading to autosomal trisomy are described to show that the proportion of trisomics carrying three alleles from three of their grandparents is bound to be greater than zero for any locus anywhere on a trisomic chromosome. The use of A.W.F. Edwards' method of support is then demonstrated on various sets of data to definitely exclude the ABO, MN, P, Jk, Gc and Lp loci from chromosome no. 21, and the theory is extended to show that about 401 of 47,XXY men receive an extra X from their fathers and 60% from their mothers, and that in general 46,XX men are more likely to arise from 47,XXY zygotes that lose their Y chromosomes than by an interchange between the X and Y chromosomes of their fathers.

Type of Work: Thesis (Doctorates > Ph.D.)
Award Type: Doctorates > Ph.D.
College/Faculty: Faculties (to 1997) > Faculty of Medicine and Dentistry
School or Department: Human Genetics, Department of Social Medicine
Funders: Other
Other Funders: Natural Sciences and Engineering Research Council of Canada
Subjects: Q Science > QA Mathematics > QA75 Electronic computers. Computer science
Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
URI: http://etheses.bham.ac.uk/id/eprint/7402


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