Abstract | OBJECTIVE: To verify the sensitivity and reliability of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and to develop a simple, accurate, reliability method of genetic diagnosis for AS and PWS. METHODS: Peripheral blood samples were collected from 4 suspected AS patients, 2 suspected PWS patients, 2 normal persons, and 2 molecular biologically proven positive controls (1 AS patient and 1 PWS patient). DNA was extracted and purified. MS-MLPA was used to detect the methylation of the CpG dinucleotide and the copy number in the 15q-q13 region. The results of MS-MLPA were confirmed by MSP. RESULTS: Three cases with maternal deletion on 15q11-q13 region and one case with paternal uniparental disomy (UPD) or imprinting center defect in 15q11-q13 region were found in the 4 suspected AS patients. One PWS case was found to be with paternal deletion in 15q11-q13 region and the other with paternal deletion in 15q11-q13 region or UPD or imprinting center defect in 15q11-q13 region. CONCLUSION: MS-MLPA is a simple, rapid, accurate, and reliable method of genetic test.
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Authors | Mei-rong Li, Xiao-zhu Wang, Xiao-yan Liu, Yan-ling Yang, Xin-hua Bao, Yue-hua Zhang, Hui Xiong, Nan Zhong, Jiong Qin, Xi-ru Wu, Hong Pan |
Journal | Zhonghua yi xue za zhi
(Zhonghua Yi Xue Za Zhi)
Vol. 88
Issue 46
Pg. 3257-61
(Dec 16 2008)
ISSN: 0376-2491 [Print] China |
PMID | 19159549
(Publication Type: English Abstract, Journal Article)
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Chemical References |
- DNA Probes
- Reagent Kits, Diagnostic
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Topics |
- Angelman Syndrome
(diagnosis, genetics)
- Child
- Chromosomes, Human, Pair 15
(genetics)
- DNA Probes
- Humans
- Methylation
- Nucleic Acid Amplification Techniques
(methods)
- Prader-Willi Syndrome
(diagnosis, genetics)
- Reagent Kits, Diagnostic
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