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Centromeric linkage in man

Côté, Gilbert Bernard (1975)
Ph.D. thesis, University of Birmingham.

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Abstract

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:Ph.D. thesis.
Supervisor(s):Edwards, J.H.
School/Faculty:Faculties (to 1997) > Faculty of Medicine and Dentistry
Department:Human Genetics, Department of Social Medicine
Subjects:QA75 Electronic computers. Computer science
QH301 Biology
QH426 Genetics
Institution:University of Birmingham
ID Code:7402
This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder.
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