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
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Exons
/
Dystrophine
/
Délétion de gène
/
Répétitions microsatellites
/
Duplication de gène
/
Réaction de polymérisation en chaine multiplex
/
Génétique
/
Mutation
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2015
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS