LOCALIZATION OF A GENE FOR FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY TO CHROMOSOME 9Q31-33

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal rec essive severe muscular dystrophy associated with an anomaly of the bra in. Twenty-one FCMD families, 13 of them with consanguineous marriages , were analysed by genetic linkage analyses with polymorphic microsate llite markers to map the FCMD gene. Significant lod scores were obtain ed with the markers D9S58 (Z(max)=5.81 at theta=0.06), D9S59 (Z(max)=4 .33 at theta=0.02), and HXB (Z(max)=3.28 at theta=0.09) on chromosome 9q31-33. Multipoint analysis placed FCMD between D9S58 and D9S59, with a maximum lod score of 16.93. These markers will be useful for presym ptomatic, prenatal and carrier diagnosis of family members carrying FC MD, and they represent important resources for the identification of a gene responsible for FCMD.