摘要
目的对3名来自不同家系的肾上腺脑白质营养不良(ALD)携带者所怀胎儿进行产前分子诊断。方法在采用STR位点分析方法排除母体基因组DNA污染后,分别应用变性高效液相色谱和DNA测序方法对3个胎儿的羊水基因组DNA进行分析。结果胎儿1和携带者1的分析结果完全一样,均出现洗脱双峰,并经DNA测序证实,该胎儿为S108X突变携带者；胎儿2、胎儿3和正常对照一致,均为洗脱单峰,经DNA测序证实,这两个胎儿的基因组DNA上均不存在基因突变(R617C突变和1801．02del AG突变)。结论胎儿1带S108X突变,为ALD携带者；胎儿2不带R617C突变,为正常纯合子；胎儿3不带1801—02del AG突变,为正常半合子。
Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy （ALD）. Methods The amniotic fluid was obtained with the help of a clinical doctor and the genomic DNA was isolated from it. Maternal DNA contamination was excluded by fluorescent STR profiling. The S108X, R617C and 1801-02 del AG mutations found in the 3 different pedigrees were searched in genomic DNA of amniotic fluid cells （AFC） from 3 fetuses by denaturing high performance liquid chromatography （DHPLC） and DNA direct sequencing. Results Two different eluting peaks were detectable from the genomic DNA of the fetus 1 and her mother using DHPLC but not from that of the fetus＇ s father and unrelated controls. S 108X mutation was found in one allele of the fetus and her mother using DNA direct sequencing. One eluting peak was visualized in the genomic DNA of the fetus 2 and 3 using DHPLC, which was identical to those from the DNA of their fathers and controls. R617C mutation or 1801-02 del AG mutation was not detectable in their genomic DNA. Conclusion Fetus 1 had S108X mutation on her ABCD1 gene and she was an ALD carrier. Fetus 2 had no R617C mutation on her ABCD1 gene and she was a normal homozygote. Fetus 3 had no 1801-02 del AG mutation on his ABCD1 gene and he was a normal hemizygote.
出处
《中华神经医学杂志》
CAS
CSCD
2006年第9期943-946,共4页
Chinese Journal of Neuromedicine
