We analyzed a sample of 1,485 families with hemophilia A and B and with unknown diagnosis. The frequency of sporadic cases was estimated to be .166 and .078 for the two types of hemophilia, respectively. The sex ratio of mutation rates did not differ significantly from unity. The average age of maternal grandfathers of probands at birth of mothers with a single child, affected by hemophilia B, and of maternal grandfathers of probands at birth of mothers with more than one child affected by hemophilia B, was higher than the age in appropriate control groups.

Segregation analysis of Hemophilia A and B

BARRAI, Italo Enrico;BARBUJANI, Guido;
1985

Abstract

We analyzed a sample of 1,485 families with hemophilia A and B and with unknown diagnosis. The frequency of sporadic cases was estimated to be .166 and .078 for the two types of hemophilia, respectively. The sex ratio of mutation rates did not differ significantly from unity. The average age of maternal grandfathers of probands at birth of mothers with a single child, affected by hemophilia B, and of maternal grandfathers of probands at birth of mothers with more than one child affected by hemophilia B, was higher than the age in appropriate control groups.
1985
Barrai, Italo Enrico; Cann, H. M.; Cavalli–sforza, L. L.; Barbujani, Guido; De Nicola, P.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1682409
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