TY - JOUR
T1 - Single cell analysis of some deletion in dystrophin gene exons and gender determination by 3-plex nested PCR
AU - Huang, Wen
AU - Zhang, Cheng
AU - Xie, You Mei
AU - Chen, Song Lin
AU - Jiao, Ze Xu
AU - Zhou, Canquan
AU - Zhang, Wei Xi
AU - Lu, Xi Lin
PY - 2004/8/10
Y1 - 2004/8/10
N2 - Objective: 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. Methods 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. Results: 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 exon 19 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. Conclusion: 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.
AB - Objective: 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. Methods 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. Results: 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 exon 19 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. Conclusion: 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.
KW - Duchenne muscular dystrophy
KW - Nested polymerase chain reaction
KW - Single lymphocyte cell
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M3 - Article
C2 - 15300642
AN - SCOPUS:3943112415
SN - 1003-9406
VL - 21
SP - 389
EP - 391
JO - Chinese Journal of Medical Genetics
JF - Chinese Journal of Medical Genetics
IS - 4
ER -