Haplotype analysis of His 58, Ala 60 and Tyr 77 types of familial amyloidotic polyneuropathy

Abstract

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease characterized by the systemic accumulation of amyloid fibrils. Variant types of transthyretin (TTR) have been identified as major components of FAP amyloid. In the United States, several different kindreds with FAP including those with His 58, Ala 60 and Tyr 77 mutations have been found. To determine the origin and spread of the disease, the DNA haplotypes at the TTR locus were examined in two families with the His 58 mutation, four with Ala 60 and four with Tyr 77 (one from Amiens, France). Our results showed that there are at least two independent origins of the Tyr 77 mutation of FAP.

Key Words:

• TRANSTHYRETIN VARIANTS
• GENETIC DISEASE
• POLYMORPHISM
• LINKICE ANALYSIS