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目前已报道有5种基因突变类型(mut0、mut-、cblA、cblB、cblD2)可导致甲基丙二酸血症,有4种基因突变类型(cblC、cblD、cblF、cblJ)可导致甲基丙二酸血症合并同型半胱氨酸尿症;cblX基因(HCFC1)突变导致X-连锁的甲基丙二酸血症合并同型半胱氨酸尿症。cblA型甲基丙二酸血症预后最好,cblC型甲基丙二酸血症合并同型半胱氨酸尿症是中国人群中多见的疾病类型。甲基丙二酸血症、甲基丙二酸血症合并同型半胱氨酸尿症患者的临床治疗效果及预后与基因型有密切联系。及早通过基因分型进行分子诊断,可以明确诊断,对指导治疗、判断预后以及对下一胎进行产前诊断具有重要意义。
It has been reported that five kinds of gene mutation types (mut0, mut-, cblA, cblB, cblD2) can lead to methylmalonic acidemia. There are four kinds of gene mutation types (cblC, cblD, cblF, cblJ) Malonatemia with homocysteineuria; mutations in the cblX gene (HCFC1) lead to X-linked methylmalonic acidmia with homocysteineuria. cblA type methylmalonic acid the best prognosis, cblC type of methylmalonic acid with homocysteineuria is the most common type of disease in the Chinese population. Methylmalonic acid, methylmalonic acid and homocysteine in patients with homocysteine clinical efficacy and prognosis of genotypes are closely linked. Early molecular diagnosis by genotyping, can confirm the diagnosis, to guide the treatment, to determine the prognosis and the prenatal diagnosis of the next fetal significance.