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目的:建立规范的Duchenne型肌营养不良症产前基因诊断程序。方法:通过Y染色体性别决定基因判断胎儿性别,运用聚合酶链反应检测4个Duchenne型肌营养不良症家系中先证者dystrophin基因缺失热区内16个外显子是否缺失,并对胎儿进行相应外显子检测;对家系成员和胎儿进行第45、49、50内含子以及5’和3’端短片段串联重复序列的基因连锁分析。结果:2例胎儿为正常男性,1例胎儿为正常女性,1例男性胎儿获得风险染色体。结论:在规范的检测程序和有效的质量控制下,Duchenne型肌营养不良症基因缺失检测结合连锁分析能准确地对Duchenne型肌营养不良症进行产前基因诊断,且是目前最有效的实验室方法。
Objective: To establish a standardized Duchenne muscular dystrophy prenatal genetic diagnosis program. Methods: The genotypes of Y chromosome were used to determine the sex of the fetus. Polymerase chain reaction was used to detect the presence or absence of 16 exons in the absence of dystrophin gene in four Duchenne muscular dystrophy families. Exon detection; linkage analysis of members 45 and 49, 50, intron and tandem repeats of 5 ’and 3’ short fragments of family members and fetuses. Results: Two fetuses were normal male, one fetus was normal female and one male fetus was risk chromosome. Conclusion: Duchenne muscular dystrophy gene deletion detection combined with linkage analysis can accurately diagnose Duchenne muscular dystrophy for prenatal gene diagnosis under standardized testing procedures and effective quality control, and is currently the most effective laboratory method.