An Experiment in Presymptomatic Diagnosis.

Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease.

BACKGROUND The potential for therapy for Wilson disease (WD) emphasizes the importance of presymptomatic diagnosis in families with WD (WD families). OBJECTIVES To investigate the feasibility of presymptomatic DNA diagnosis and evaluate the efficacy of zinc sulfate therapy in WD families. METHODS Seventy-eight clinically unaffected siblings were studied from 51 unrelated WD families that we...

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new pro...

Informative STR Markers for Marfan Syndrome in Birjand, Iran

Objective(s)Marfan syndrome (MFS) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. Early diagnosis is critical in MFS. Because of the large size of fibrillin-1 gene (FBN1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of MFS. In this study, eight polymorphic marker...

Ethical considerations of genetic presymptomatic testing for Huntington's disease.

The aim of this literature review was to determine if there is adequate ethical justification for presymptomatic genetic testing on potential Huntington's disease patients. Huntington's disease is a neurological genetic disorder characterized by midlife onset which consists of cognitive, physical, and emotional deterioration. Although genetic testing has traditionally been guided by the princip...

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.

BACKGROUND Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). It is genetically heterogeneous, and although the exact number of genes is not known, 38 loci have been identified. By cloning the relevant genes and studying the function of the encoded proteins at the molecular level, it may be possible to impact the habitation of persons at risk for HH...

An Attempt at Presymptomatic Diagnosis of Gastric Carcinoma in Pernicious Anaemia.