[Genetic analysis for hereditary disorders].

Abstract

Many genetic abnormalities responsible for hereditary disorders has been localized on chromosomes by positional cloning. Identification of RFLP and VNTR markers facilitated the process. Once mutations have been fully characterized, prenatal or presymptomatic diagnosis can be easily made by using polymerase chain reaction (PCR). Since no curable treatments are available for most of hereditary disorders, the following premises should be well understood when performing genetic analysis; 1) association of the mutation to look at and the hereditary disorder must be clearly demonstrated, 2) patients and their families must have opportunities to have counseling on the disease by experts in the field. 3) everybody must respect the will of patients and families to have or not to have genetic analyses, 4) every information should be securely kept and privacy of patients and families must be fully protected, and 5) genetic analysis procedures must be accurate and reliable. Recently, we characterized dysfibrinogenemia Matsumoto I. The proband was asymptomatic and only screening coagulation tests revealed mild prolongation of prothrombin time. Its functional level was as low as 5% of its immunologically determined level. Genetic analysis identified an amino acid substitution of gamma 364Asp-->His. Living-related liver transplantation performed to treat a patient with familial amyloid polyneuropathy is briefly described in this article.