재단소식
소식
대한진단검사의학회지에 논문 게재
2009-04-08
본원 분자유전연구소 진단검사전문의 조은해 선생의 논문이 대한진단검사의학회지(2009)
에 게재 되었습니다.
정신지체의 원인인 여러 미세결실증후군의 선별검사로 이용되는 Multiplex Ligation-Dependent Probe Amplification으로 형광동소교잡법의 비교 평가
Cho EH, Park BY, Cho JH, Kang YS
Background : Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.
Methods : We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome).
Result : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes.
Conclusion : On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes. (Korean J Lab Med 2009;29:71-6)
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