PMID- 10653912
OWN - NLM
STAT- MEDLINE
DCOM- 20000427
LR  - 20061115
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 17
IP  - 1
DP  - 2000 Feb
TI  - [Detection of Prader-Willi syndrome by methylation-specific PCR].
PG  - 54-6
AB  - OBJECTIVE: Using a faster and more efficient method to diagnose Prader-Willi 
      syndrome(PWS). METHODS: Differential DNA methylation at several sites in the PWS 
      critical region where the maternal homologue is unmethylated and 
      transcriptionally active. Methylation-specific PCR(MSPCR) is based on sodium 
      bisulfite treatment of DNA, which converts unmethylated but not methylated 
      cytosine residues to uracil, and PCR primers specific for the maternal and the 
      paternal allele. Methylation analysis by Southern blot is made to validate the 
      MSPCR result. RESULTS: Bisulfite-modified DNA from PWS patients amplified only 
      with methylated allele-specific primer pair showed only maternal 174bp PCR 
      product. MSPCR and PW71B methylation studies showed an abnormal pattern 
      consistent with the clinical diagnosis of PWS. Untreated DNA does not produce a 
      PCR product. CONCLUSION: MSPCR can be used to detect all presently testable 
      causes of PWS (deletion, uniparental disomy, and imprinting mutation) in an 
      efficient first step for stepwise diagnostic testing, compared with either 
      Southern blot analysis which is more timeconsuming, or fluorescence in situ 
      hybridization(FISH) which can not detect uniparental disomy or imprinting 
      mutation.
FAU - Song, M
AU  - Song M
AD  - Human Reproductive Engineering Laboratory, Hunan Medical University, Changsha, 
      Hunan, 410078 P.R. China. threlhmu@public.cs.hn.cn
FAU - Li, L
AU  - Li L
FAU - Fu, J
AU  - Fu J
FAU - Li, X
AU  - Li X
FAU - Lu, G
AU  - Lu G
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Adolescent
MH  - *DNA Methylation
MH  - Humans
MH  - Male
MH  - Polymerase Chain Reaction/*methods
MH  - Prader-Willi Syndrome/*diagnosis
EDAT- 2000/02/02 09:00
MHDA- 2000/04/29 09:00
CRDT- 2000/02/02 09:00
PHST- 2000/02/02 09:00 [pubmed]
PHST- 2000/04/29 09:00 [medline]
PHST- 2000/02/02 09:00 [entrez]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Feb;17(1):54-6.