Genetic diagnosis for a family without exonic deletions and duplications of dystrophin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 81-84, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-239529
ABSTRACT
<p><b>OBJECTIVE</b>To conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.</p><p><b>METHODS</b>Potential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.</p><p><b>RESULTS</b>MLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.</p><p><b>CONCLUSION</b>The causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exons
/
Dystrophin
/
Gene Deletion
/
Microsatellite Repeats
/
Gene Duplication
/
Multiplex Polymerase Chain Reaction
/
Genetics
/
Mutation
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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