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甲型血友病是一种最常见的X连锁隐性遗传性出血性疾病,至今尚无满意的治疗方法,故进行有效的遗传控制,防止患儿出生十分必要.目前,国内外多采用FⅧ基因内及与FⅧ基因紧密连锁的限制酶片段长度多态性(RFLPs)为遗传标志,通过连锁分析进行携带者检出和高危胎儿出生前诊断.聚合酶链反应(PCR)技术利用一对寡核苷酸引物在体外扩增特异DNA片段,已广泛用于β地中海贫血突变基因的检测;此外,PCR还可检测限制酶位点的改变,通过RFLPs连锁分析诊断甲型血友病基因.本实验室采用PCR对4个甲型血友病家系进行基因连锁分析,其中包括3例高危胎儿的出生前基因诊断.
Hemophilia A is the most common X-linked hereditary hemorrhagic disease, so far there is no satisfactory treatment, so effective genetic control, to prevent the birth of children is very necessary.At present, the use of FⅧ at home and abroad to use more Genes and restriction fragment length polymorphisms (RFLPs) closely linked to the FⅧ gene were used as genetic markers for carrier detection and prenatal diagnosis of high-risk fetuses by linkage analysis. Polymerase chain reaction (PCR) Nucleotide primers amplify specific DNA fragments in vitro and have been widely used for the detection of beta thalassemia mutants. In addition, PCR can detect changes in restriction enzyme sites and diagnose hemophilia A by RFLPs linkage analysis The laboratory used PCR to analyze the genetic linkage of four hemophilia A pedigrees, including prenatal genetic diagnosis of three high-risk fetuses.