Cardiac involvement in a large kindred with myotonic dystrophy: quantitative assessment and relation to size of CTG repeat expansion

Article Abstract:

The number of trinucleotide (cytosine-thymine-guanine) repeats on a gene appears to predict heart abnormalities in people with myotonic dystrophy, a form of muscular dystrophy. Researchers compared a blood-related group of 91 patients with myotonic dystrophy with age-matched normal people. All participants completed a neurological examination, an electromyogram, an electrocardiogram, and an echocardiogram examination. DNA obtained from blood leukocytes was used to assess the size of the cytosine-thymine-guanine repeat. Twenty-five of the 91 family members were diagnosed with myotonic dystrophy, nine of which had no symptoms. Patients with myotonic dystrophy had far greater incidences of abnormal heart abnormalities than controls. In this family of patients, the size of the repeat was linked to cardiac abnormalities and to severity and onset of the neurologic disease. Cytosine-thymine-guanine repeat size is believed to become larger in successive generations.

Heart diseases

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Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring

Article Abstract:

Analysis the GCT repeat number and its amplification from parent to child may be an effective method for identifying individuals with the gene for myotonic dystrophy (DM) and for prenatal diagnosis of the disease. DM is a rare hereditary disorder characterized by progressive wasting of the muscles, cataracts, hormonal imbalances and cardiac abnormalities. A study analyzed the GCT repeat number of 241 patient samples of DNA from 118 families at risk for DM. An association was found between increased GCT repeat number and an earlier onset of DM. Analysis of the GCT repeat number for 32 pregnancies was effective in identifying fetuses at-risk for DM. Individuals with the mutant gene for DM can have hundreds or thousands of copies of the GCT triplet in the affected gene, compared with five to 37 copies in individuals without the mutant gene.

Genetic screening, Genetic testing, Prenatal diagnosis

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In utero paternity testing following alleged sexual assault: a comparison of DNA-based methods

Article Abstract:

Prenatal paternity of a consensual partner may be affirmed or ruled out quickly by using in utero DNA typing with polymerase chain reaction. Ten women who had been sexually assaulted but also had a consensual partner wanted to determine paternity. Blood samples from women and consensual partners were studied. Fetal genetic analysis was performed on cultured amniotic cells. The DNA patterns of the fetus were matched with the DNA of the consensual partner. A mismatch between the fetus and the partner would suggest that the fetus was not the partner's child. In six of the 10 cases, the fetus was the child of the consensual partner. In the other four cases the consensual partner was ruled out as the father. Three of the four pregnancies were terminated.

Usage, Testing, DNA, Polymerase chain reaction, Paternity testing

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