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为探索对Wilson病产前基因诊断的方法,应用13号染色体上3个STR位点的扩增片段长度多态性(Amp-FLP)为遗传标记,对3个WD家系进行产前诊断,结果2个胎儿为致病基因携带者,1个胎儿为患者。表明以这3个多态位点为遗传标记,能快速、简便、准确地对该病进行产前诊断。
In order to explore the method of prenatal gene diagnosis of Wilson’s disease, the prenatal diagnosis of three WD pedigrees was performed by using the amplified fragment length polymorphism (Amp-FLP) of three STR loci on chromosome 13 as a genetic marker Two fetuses are carriers of disease-causing genes and one fetus is a patient. These three polymorphic loci are genetic markers, which can be used to diagnose the disease quickly, easily and accurately.