[Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
OBJECTIVE
To establish a method of multiplex ligation-dependent probe amplification (MLPA) for clinical screening of Williams syndrome (WS) and for routine use in WS diagnosis.


METHODS
Probes for MLPA were designed according to the frequent deletion regions, and used to screen the two patients suspected with Williams syndrome, and the density of the bands were analyzed with software. Linkage analysis using polymorphic markers was performed to confirm the positive result of MLPA.


RESULTS
The MLPA data indicated that the two children had possible microdeletions in the WS critical region. The deletions were confirmed and both were maternal origin by polymorphism analysis.


CONCLUSIONS
MLPA is a quick and convenient method for detecting deletion or duplication mutations. It can provide reliable and helpful information for clinical diagnose of Williams syndrome.
Peng
Yuan-yuan
YY
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing, 100005 P.R. China.
Meng
Yan
Y
Qiu
Zheng-qing
ZQ
Wang
Ou
O
Huang
Shang-zhi
SZ
D002648:Child; D006801:Humans; D022521:Ligase Chain Reaction / Q000379:methods*; D008297:Male; D015345:Oligonucleotide Probes / Q000235:genetics; D017384:Sequence Deletion; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
D015345:Oligonucleotide Probes