Genetic linkage studies of ataxia-telangiectasia: phenotypic blood markers

Gatti, R.A.; Davis, R.C.; Weeks, D.E.; Jaspers, N.J.; Sparkes, R.S.; Lange, K.

Disease Markers 5(4): 207-213

1987


ISSN/ISBN: 0278-0240
PMID: 3502989
Document Number: 294561
We have tested thirty-two phenotypic blood markers on sixteen families with with ataxia-telangiectasia (AT) in an attempt to identify the chromosomal location of the AT gene(s). Although at least five complementation groups have been defined, it is not known whether the corresponding AT genes are clustered or dispersed in the genome. Both clustered and dispersed genetic models were considered in linkage analyses. No significant linkages were found. The data exclude approximately 7 per cent of the autosomal genome for a 'clustered' model and 2 per cent of the autosomal genome for a 'dispersed' model. Several genomic areas were identified which warrant further study.

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