Prenatal prediction of spinal muscular atrophy in Chinese.
We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.
Lin
S P
SP
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan, ROC.
Chang
J G
JG
Jong
Y J
YJ
Yang
T Y
TY
Tsai
C H
CH
Wang
N M
NM
Li
H
H
Hsieh-Li
H M
HM
Hu
C J
CJ
D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013624:Taiwan
C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific; C035594:TTTAAA -specific type II deoxyribonucleases