Centre for Paediatric Epidemiology and Biostatistics
Institute of Child Health, University College London
The following seminar will take place on Friday 7th May at 2:30 pm in
the Levinsky Room, Institute of Child Health, 30 Guilford Street, London
WC1N 1EH
Histories of Allelles can be histories of populations
Professor Charles R Scriver
Alva Professor of Human Genetics
Departments of Biology, Human Genetics & Pediatrics
McGill University, Montreal
Abstract
Locus-specific alleles are being used to recreate stories of human
histories. The beta-globin and phenylalanine hydroxylase loci are used
here to tell two stories. The first describes how we helped an
acquaintance in Montreal, who possessed an unusual allele associated with
beta-Thalassemia minor, to discover relatives he did not know he had. In
the second story, Penrose's observation (1946)
that PKU is non randomly distributed in human populations, is
reexamined. PAH alleles can now be sampled around the world.
They reveal a story of an Out-of-Africa diaspora with subsequent demic
expansion, founder effects and genetic drift, and range expansion
over the past 4000 generations. Preliminary data point to an interesting
hypothesis: PKU is a post-Out-of-Africa phenotype
in Homo sapiens. Why this might be the case is of interest.
Information on how to get to the Institute of Child Health can be found in
http://www.ich.ucl.ac.uk/gosh_families/your_visit/getting_here/index.html
_______________________
Mario Cortina Borja
Senior Lecturer in Statistics
[log in to unmask] Phone +44(0)20 7905 2113 Fax +44(0)20 7905 2381
Paed. Epid. & Biostats, Institute of Child Health, UCL, London WC1N 1EH, UK
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