变性高效液相色谱法在肾上腺脑白质营养不良分子诊断中的应用

目的：目的对4个肾上腺脑白质营养不良（ALD）家系进行基因突变分析。方法：应用变性高效液相色谱（DHPLC）技术检测了4个ALD家系的A／3091基因，并通过核苷酸序列分析确证突变位点。结果：所有患儿的母亲，患儿2、患儿3、患儿4弟弟及其表弟与正常对照的PCR产物混合物。均出现DHPLC洗脱双峰。而正常对照均为单峰，提示相应基因片段存在突变位点。上述出现异源双峰的PCR产物经直接测序．证实了相关突变的存在：患儿1母亲为fs Glu 471突变携带者；患儿2存在S108X突变；患儿3存在R617C突变；患儿4弟弟和表弟均存在A141T突变。结论：DHPLC能有效地检测ABCD1基因突变。并为进—步地基因突变筛查与产前诊断提供依据。

MUTATION DETECTION OF ABCD1 GENE IN THE MOLECULAR DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY BY DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY

Objective:To detect the mutations of ABCD1 gene by denaturing high performance liquid chromatography (DHPLC).Method:DHPLC was used to examine the ABCD1 gene in four Chinese families with X-liked adrenoleukodystrophy (X-ALD).The suspectable mutations were comfirmed by DNA sequencing.Results:In the abnormal DHPLC profiles,double peaks were found in PCR products of all patients' mothers,the mixed PCR products of corresponding normal controls and patient 2,3,brother or cousin of patient 4,which indicated the pr...