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DMD是男性最常见的一种X连锁隐性遗传病,男性活婴的发病率约为1/3500。目前产前诊断和选择性流产是防治该病的唯一有效手段。本文收集DMD家系2个。1个家系中孕妇孕20周,取羊水40ml;而另1个家系中孕妇孕9周,用盲吸法取绒毛30mg湿重。用上述胎儿样品鉴定胎儿性别并提取DNA。用克隆的C7、754及pERT87-1、8、15、DNA片段作探针,应用连锁分析法对2个家系的有关成员的外周血DNA及胎儿DNA样品进行了5种RFLPs分析。发现pERT87-8(TaqI)及pERT87-15(TaqI)两种RFLPs在2个家系中均出现杂合的等位片段,具有信息意义。从这个RFLPs在家系中的遗传与分离情况得知,胎儿的DMD基因座是正常的,胎儿为正常男胎。随访的结果进一步支持诊断。此外,本文还分析了用羊水、绒毛作为样品获取胎儿DNA进行分析时应注意的问题及防止方法。
DMD is the most common male X-linked recessive disease, the incidence of male live births is about 1/3500. The current prenatal diagnosis and selective abortion is the only effective means of prevention and treatment of the disease. This article collected two DMD family. Pregnant women in a family of 20 weeks of pregnancy, taking amniotic fluid 40ml; while the other a family of pregnant women in 9 weeks of pregnancy, with a suction method to take the fluff 30mg wet weight. Identify fetal sex and extract DNA using the above fetal samples. Using the cloned C7,754 and pERT87-1, 8,15 and DNA fragments as probes, five kinds of RFLPs were analyzed by linkage analysis on peripheral blood DNA and fetal DNA samples of the two families. It was found that heterozygous allelic fragments of two RFLPs, pERT87-8 (TaqI) and pERT87-15 (TaqI), were found in two families, which is informative. From the genetic and isolation of this RFLPs in the pedigree, we know that the fetal DMD locus is normal and the fetus is a normal male fetus. The follow-up results further support the diagnosis. In addition, this article also analyzes the use of amniotic fluid, villi as a sample to obtain fetal DNA analysis should pay attention to the problems and prevention methods.