PRENATAL-DIAGNOSIS OF FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY IN 8 JAPANESE FAMILIES BY HAPLOTYPE ANALYSIS USING NEW MARKERS CLOSEST TOTHE GENE

We conducted prenatal diagnosis by haplotype analysis, easing newly de veloped microsatellite markers, in eight Fukuyama type congenital musc ular dystrophy (FCMD) families, In addition to six new families, two p reviously reported families were reexamined by haplotype analysis incl uding detection of an ancestral founder haplotype (138-183-301) for 3 microsatellite markers closest to the FCMD gene, designated D9S2105-D9 S2107-D9S172, the distances of which from the FCMD gene are presumed t o be similar to 140, similar to 20, and similar to 280 kb, respectivel y. Five fetuses from bye families were diagnosed as nonaffected, and w ere subsequently confirmed to be healthy. Three fetuses of the other t hree families were diagnosed as having a high probability of being aff ected by FCMD. In the prenatal diagnosis conducted for these eight fam ilies, the ancestral founder allele was observed in 13 of 16 (81%) FCM D-bearing chromosomes. Detection of the ancestral haplotype facilitate d achieving accurate prenatal diagnosis of FCMD. The brains of all thr ee fetuses prenatally diagnosed as FCMD-affected showed the initial st age of cortical dysplasia, strong evidence of FCMD, (C) 1998 Wiley-Lis s, Inc.