[A study on genetic diagnosis for Angelman syndrome].
OBJECTIVE
To study the genetic diagnosis of Angelman syndrome(AS), and provide information for clinic diagnosis and counseling to AS families.


METHODS
Methylation specific-PCR (MS-PCR) was used for primary diagnosis of 16 clinically suspected AS cases, and linkage analysis by short tandem repeat (STR) was applied to detect the molecular genetic defect in the nuclear families.


RESULTS
In this study, 10 AS patients were identified by MS-PCR, and 9 of them with maternal deletion in chromosome 15q11-q13, 1 with imprinting defect in chromosome 15q11-q13 were confirmed by STR linkage analysis.


CONCLUSIONS
Most of the AS patients could be confirmed by MS-PCR. And STR linkage analysis can detect the molecular defect of AS. It is very important for disease diagnosis, genetic counseling and prenatal diagnosis to perform the related genetic diagnosis.
Liu
Li-jun
LJ
Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, PR China.
Bai
Jin-li
JL
Qu
Yu-jin
YJ
Jin
Yu-wei
YW
Wang
Hong
H
Song
Fang
F
D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree