Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization

정신지체의 원인인 여러 미세결실증후군의 선별검사로 이용되는 Multiplex Ligation-Dependent Probe Amplification로 형광동소교잡법의 비교 평가

Cho, Eun-Hae;Park, Bo-Ya-Na;Cho, Jung-Hee;Kang, You-Sun
조은해;박보야나;조정희;강유선

  • Published : 20090200
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Abstract

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). Results : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. Conclusions : 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.

배경 : 전통적인 염색체 분석으로 관찰되지 않는 미세결실증후군이 특발성 정신지체의 5%를 차지한다. 따라서 특발성 정신지체 환자에서 특정 미세결실증후군을 배제하는 것이 매우 중요하다. 정신지체증후군(mental retardation syndrome)-multiplex ligation dependent probe amplification (MRS-MLPA) 는 유전자의 수적 변화를 검출하는 새로운 기술로서 여러 미세결실증후군(1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelmann syndrome, Alagille syndrome, Saethre-Chotzen syndrome, Sotos syndrome) 에 대한 검사를 동시에 시행할 수 있어 검사실 업무를 상당히 줄 일 수 있다. 방법 : MLPA (MRC-Holland, The Netherlands)의 미세결실증후군의 검출능력을 형광동소교잡법 결과와 비교하였다. 형광동소교잡법 결과 미세결실증후군으로 판정된 12명(3 DiGeorge sydndrome, 4 Williams Syndrome, 4 Prader-Willi/Angelman Syndrome, 1 Miller-Dieker syndrome) 환자에서 MLPA 분석을 시행하였다. 결과 : 형광동소교잡법상 미세결실증후군을 보인 12명의 환자에서 모두 MLPA 검사결과는 형광동소교잡법 결과와 일치하였다. 결론 : MLPA 분석법은 정확하고, 신뢰할만한 결과를 보여주었으며, 특발성 정신지체 환자에서 미세결실 증후군을 선별하는데 있어, 형광동소교잡법의 대체검사로 저렴하게 이용될 수 있을 것으로 사료되었다.

Keywords

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