Abstract 814 Poster Session IV, Tuesday, 5/4 (poster 205)

Marfan syndrome caused by the mutations of fibrillin-1-gene has been identified since 1991. However, this fibrillin gene is relatively large and highly fragmented by exons. Furthermore, most of the mutations in Marfan syndrome are widespread in the whole fibrillin-1-gene and unique to each family. These factors make the wide use of direct analysis of mutations for presymptomatic and prenatal diagnosis of Marfan syndrome laborious and impractical. Because more than 70% of Marfan syndrome are inherited form, the linkage analysis in family screening is a good alternative method for the presymptomatic and prenatal diagnosis. We use four intragenic microsatellites, which were localized in the introns 1, 5, 28, and 43 of fibrillin-1-gene respectively, as the genetic markers to analyze the haplotypes of six Chinese families with Marfan syndrome. All the haplotypes that carry disease-producing mutations in these families could be identified by these four microsatellite markers. It is supposed that the linkage analysis of these highly informative intragenic microsatellite markers would provide a useful and simple method in presymptomatic or prenatal diagnosis in Chinese or probable other populations with familial Marfan syndrome.