Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
نویسندگان
چکیده
منابع مشابه
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.
The results of DNA analysis for the specific mutation of myotonic dystrophy are reported in eight pregnancies (two studied retrospectively) in six families. Four results were normal; in the other four, large DNA expansions were found, comparable to the range seen in severely affected children with congenital onset of the disorder. The results agreed with those obtained by linked DNA markers in ...
متن کاملSyncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1.
INTRODUCTION Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50-100 repeats have not been reported. CASE REPORT In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, and hyperCKemia, 70 CTG repeats were detected in the DMPK gene. Her brother had presented atypical ...
متن کاملSomatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.
Myotonic dystrophy is characterised by the striking level of somatic heterogeneity seen between and within tissues of the same patient, which probably accounts for a significant proportion of the pleiotropy associated with this disorder. The congenital form of the disease is associated with the largest (CTG)n repeat expansions. We have investigated the timing of instability of myotonic dystroph...
متن کاملTissue Specific Expression of Human Calcitonin Gene in Potato Tubers by an Organ Specific Promoter
To increase the production level of heterologous proteins in plants, strategies such as choice of strongerpromoters, optimization of codon usage and specific localization of foreign proteins are of major concern.Calcitonin (CT), a 32 amino acid polypeptide is a powerful and specific inhibitor of bone resorption and isused to treat several human diseases. Calcitonin activity is...
متن کاملOrigin of a regressed myotonic dystrophy allele.
A new case of regression of the CTG copy number in the myotonic dystrophy allele was observed in a 7 year old boy. His affected father had an expanded allele of about 100 repeats in his lymphocyte DNA while the child showed a 60 repeat allele, of the same size as the present in the grandfather. Analysis of the father's sperm DNA allowed us to detect an expanded fragment of approximately the sam...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1999
ISSN: 1460-2083
DOI: 10.1093/hmg/8.6.1017