[Gene diagnosis of facioscapulohumeral muscular dystrophy].
OBJECTIVE
To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).


METHODS
Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb.


RESULTS
In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb.


CONCLUSIONS
It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.
Zhang
Jing-li
JL
Institute of Geriatrics and Gerontology, Beijing, 100853 PR China. zjlphd@hotmail.com
Shen
Ding-guo
DG
Zhou
Ping-kun
PK
Liu
Jian-wei
JW
Jia
Ning
N
Liu
Hong
H
Wang
Hong-bin
HB
Yang
Su-xia
SX
Frants
Rune R
RR
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D053938:DNA Fragmentation; D015246:Deoxyribonuclease EcoRI / Q000378:metabolism; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics; D015183:Restriction Mapping; D055815:Young Adult
D015246:Deoxyribonuclease EcoRI