PRENATAL EXCLUSION OF DUCHENNE MUSCULAR-DYSTROPHY BY FETAL MUSCLE BIOPSY

被引:6
作者
BENZIE, RJ
RAY, P
THOMPSON, D
HUNTER, AGW
IVEY, B
SALVADOR, L
机构
[1] UNIV TORONTO,HOSP SICK CHILDREN,DIV MOLEC GENET,TORONTO M5G 1X8,ON,CANADA
[2] UNIV OTTAWA,CHILDRENS HOSP EASTERN ONTARIO,DIV GENET,OTTAWA,ON,CANADA
关键词
DUCHENNE MUSCULAR DYSTROPHY; IN UTERO MUSCLE BIOPSY; PRENATAL DIAGNOSIS;
D O I
10.1002/pd.1970140402
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male.
引用
收藏
页码:235 / 238
页数:4
相关论文
共 6 条
[1]   INUTERO FETAL MUSCLE BIOPSY FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY [J].
EVANS, MI ;
GREB, A ;
KUNKEL, LM ;
SACKS, AJ ;
JOHNSON, MP ;
BOEHM, C ;
KAZAZIAN, HH ;
HOFFMAN, EP .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1991, 165 (03) :728-732
[2]   FETAL MUSCLE BIOPSY [J].
GUSTAVII, B ;
LOFBERG, L ;
HENRIKSSON, KG .
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 1983, 62 (04) :369-371
[3]   DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS [J].
HOFFMAN, EP ;
BROWN, RH ;
KUNKEL, LM .
CELL, 1987, 51 (06) :919-928
[4]   CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY [J].
HOFFMAN, EP ;
FISCHBECK, KH ;
BROWN, RH ;
JOHNSON, M ;
MEDORI, R ;
LOIKE, JD ;
HARRIS, JB ;
WATERSTON, R ;
BROOKE, M ;
SPECHT, L ;
KUPSKY, W ;
CHAMBERLAIN, J ;
CASKEY, CT ;
SHAPIRO, F ;
KUNKEL, LM .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (21) :1363-1368
[5]  
KULLER JA, 1992, HUM GENET, V90, P34
[6]   DUCHENNE MUSCULAR-DYSTROPHY - PATHOGENETIC ASPECTS AND GENETIC PREVENTION [J].
MOSER, H .
HUMAN GENETICS, 1984, 66 (01) :17-40