June Davies

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

BACKGROUND Myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patients age at their onset can make diagnosis difficult. A specific unstable DNA sequence associated with myotonic dystrophy has recently been identified. We describe the use of a DNA probe (p5B1.4) that can detect this mutation directly, improving the accuracy and speed of diagnosis. METHODS We analyzed DNA extracted from the peripheral-blood lymphocytes of 112 unrelated patients with myotonic dystrophy and their families, using molecular genetic techniques. Southern blot analysis and amplification with the polymerase chain reaction were used to determine the extent of expansion of the unstable DNA sequence. RESULTS Probe p5B1.4 allowed direct identification of the myotonic dystrophy mutation in 108 of the 112 unrelated patients. In three families for whom the clinical and genetic data obtained with linked probes were ambiguous, the probe identified persons at risk for symptoms of this disorder and demonstrated that a possible sporadic case of myotonic dystrophy was familial. In one of these families the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring, who remained asymptomatic. CONCLUSIONS The diagnosis of myotonic dystrophy is improved by the use of a probe that detects directly the mutation responsible for this disorder.

Helicobacter pylori Infection in Dentists - a Case-control Study

To test the null hypothesis that frequent and multiple salivary exposure is not a risk factor for developing H. pylori infection, serum anti-H. pylori IgG from 179 dentists and dental students and 179 age-, sex- and socioeconomic-matched controls were assayed using an ELISA. Seroprevalence in dentists was 16% (11/70); clinical dental students 6% (3/47); and pre-clinical dental students 10% (6/62). There were no differences in H. pylori seropositivity between cases and controls. There was an increase in H. pylori seropositivity with age (chi (trend)2 9.04, p = 0.003). These data provide evidence that adults are not at high risk of developing H. pylori infection as a result of exposures to saliva from multiple sources.

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19

Myotonic dystrophy (DM) is caused by a defect in an unknown gene that maps to 19q13.3, flanked by the tightly linked markers ERCC1 on the proximal side and D19S51 on the distal side. We report the isolation and characterization of overlapping YAC and cosmid clones around D19S51 for the construction of a physical map around this locus. The resulting contig contains the markers D19S51 and D19S62 (another new marker tightly linked to the DM locus) and the distal breakpoint of a radiation hybrid cell line used in the physical mapping of the DM region. We have compared the restriction maps of the YACs and cosmids with that of the genome to investigate the fidelity of these clones.