Single cell analysis of some deletion in dystrophin gene exons and gender determination by 3-plex nested PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 389-391, 2004.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-328869
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To set up a technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene, and to evaluate the possibility of using this technique for preimplantation genetic diagnosis(PGD) of deleted Duchenne muscular dystrophy (DMD) with family history.</p><p><b>METHODS</b>Fifty single lymphocytes of a normal male and fifty of a normal female were obtained for detecting dystrophin gene(exon 51, exon 19, exon 48) and SRY gene by 3-plex nested PCR.</p><p><b>RESULTS</b>In the group of exon 51/exon 19/SRY, the amplification rates of exon 51, exon 19 and SRY in male were 96%, 94% and 94%; the amplification rates of exon 51 and exon19 in female were 94% and 94%, respectively. In the exon 48/exon 19/SRY group, the amplification rates of exon 48, exon 19 and SRY in male were 92%, 90% and 94%, the amplification rates of exon 48, exon 19 in female were 94% and 92%, respectively.</p><p><b>CONCLUSION</b>The technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene established in this study is highly sensitive, specific and reliable, and is suitable for PGD of deleted DMD with family history.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Polymerase Chain Reaction
/
Exons
/
Reproducibility of Results
/
Dystrophin
/
Sequence Deletion
/
Preimplantation Diagnosis
/
Sex Determination Processes
/
Genetics
/
Methods
Type of study:
Diagnostic study
Aspects:
Social determinants of health
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Document type:
Article