Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.
نویسندگان
چکیده
Linkage studies have been carried out in 20 families segregating for Duchenne muscular dystrophy and eight prenatal diagnoses performed, including six first trimester diagnoses and one twin pregnancy. The results of the restriction fragment length polymorphism (RFLP) analysis suggest that not all the possible RFLPs need to be used and a strategy for carrier detection studies is proposed.
منابع مشابه
Molecular biological approaches to genetic disorders in prenatal diagnosis.
DNA analysis of Duchenne muscular dystrophy (DMD) and hemophilia A was performed with the aim of establishing the most efficient and reliable method for carrier and prenatal diagnosis in the Japanese population.
متن کاملCystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis.
Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identi...
متن کاملNon‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage†
OBJECTIVE Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. METHOD Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dy...
متن کاملPreimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy...
متن کاملABC of clinical genetics. Techniques of DNA analysis.
Molecular genetics laboratory. DNA analysis is becoming a standard investigation in an increasing number of mendelian disorders. The genetic state of family members and pregnancies at risk can be determined in many conditions, including the haemoglobinopathies, Duchenne muscular dystrophy, cystic fibrosis, and Huntington's chorea. The index case is generally diagnosed by means of conventional i...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 23 6 شماره
صفحات -
تاریخ انتشار 1986