[Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene].
OBJECTIVE
To increase the sensitivity and specificity of conventional gene diagnosis of facioscapulohumeral muscular dystrophy 1A(FSHD1A) by analyzing the distribution of translocation between chromosomes 4q35 and 10q26 in suspected FSHD cases.


METHODS
The Bgl II- Bln I dosage test was performed to detect translocation between chromosomes 4q35 and 10q26 in 7 cases of presymptomatic FSHD patients showing positive result in gene diagnosis and 5 cases of sporadic FSHD patients showing negative result in gene diagnosis. DNA samples were digested with Bgl II and Bln I, followed by agrose gel electrophoresis. Probe p13E-11 was labeled with alpha-(32) P dCTP, followed by Southern hybridization. Then the ratio between the chromosomes 4 and 10 derived signal intensities was judged and hence was made known whether there was interchromosomal translocation between chromosomes 4 and 10.


RESULTS
The Bgl II-Bln I dosage test revealed a translocation from chromosome 4q35 to 10q26 in one presymptomatic FSHD patient, thus indicating the result of gene diagnosis for her might be false positive. There was one translocation from chromosome 10q26 to 4q35 detected in one sporadic FSHD patient, indicating the result of gene diagnosis for her might be false negative. There were no translocations between chromosomes 4 and 10 in the other 10 cases.


CONCLUSIONS
The Bgl II-Bln I dosage test can detect the translocation between chromosomes 4q35 and 10q26. It can improve the accuracy of the conventional method for gene diagnosis of FSHD1A.
Su
Quan-xi
QX
Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China.
Zhang
Cheng
C
Xie
You-mei
YM
Zeng
Ying
Y
Liu
Xiao-rong
XR
Lu
Xi-lin
XL
Zhu
Yan-zhen
YZ
D000293:Adolescent; D000328:Adult; D001426:Bacterial Proteins / Q000494:pharmacology*; D002648:Child; D002675:Child, Preschool; D015252:Deoxyribonucleases, Type II Site-Specific / Q000494:pharmacology*; D005260:Female; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D014178:Translocation, Genetic
D001426:Bacterial Proteins; C101270:FRG1 protein, human; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; C024404:BglII endonuclease; C064053:CCTAGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific