Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related
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DOI：
10.1038/ejhg.2014.27
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发表时间：
2014-02
影响因子：
5.2
通讯作者：
Deborah M Mackay;S. Bens;G. Perez de Nanclares;R. Siebert;I. Temple
中科院分区：
文献类型：
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作者：
Deborah M Mackay;S. Bens;G. Perez de Nanclares;R. Siebert;I. Temple
1.6分析方法DNA甲基化分析可以通过ASMM RTQ-PCR; MS-MLPA（SALSA试剂盒ME 032（MRC-Holland，Amsterdam，The Netherlands））; MS-PCR、亚硫酸氢盐焦磷酸测序、MS-SnuPE和甲基化阵列进行。3-7拷贝数失衡可通过MS-MLPA、短串联重复序列标记分型和分子核型分析（SNP阵列，aCGH）检测，在罕见的大重复的情况下，可通过FISH或细胞遗传学分析检测。单亲二体分析可以通过短串联重复标记分型或通过使用SNP阵列的分子核型分析来进行（UPD测试应该优先包括父母以获得完整的信息性）。1.7分析验证阴性（未受影响的）和阳性（受影响的）对照的平行分析。未受影响个体中甲基化和拷贝数参考范围的测定（对于相同组织类型的甲基化）。对于甲基化分析，应包括完全（体外）甲基化和未甲基化（例如，全基因组扩增）对照。
1.6 Analytical methods DNA methylation analysis can be performed by ASMM RTQ-PCR; MS-MLPA (SALSA kit ME032 (MRC-Holland, Amsterdam, The Netherlands)); MS-PCR, bisulphite pyrosequencing, MS-SnuPE and methylation array. 3–7 Copy number imbalance can be detected by MS-MLPA, short tandem repeat marker typing and molecular karyotyping (SNP array, aCGH), and in the case of rare large duplications, FISH or cytogenetic analysis. Uniparental disomy analysis can be performed by short tandem repeat marker typing or by molecular karyotyping using SNP array (UPD testing should preferentially include the parents for full informativity).1.7 Analytical validation Parallel analysis of negative (unaffected) and positive (affected) controls. Determination of methylation and copy number reference ranges in unaffected individuals (for methylation of same tissue type). For methylation analysis fully (in vitro) methylated and unmethylated (eg, whole-genome amplification) controls should be included.