Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M
Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, CBMSO, Universidad Autónoma de Madrid, Spain.
J Med Genet. 1999 May;36(5):412-4.
Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.
丙酸血症（PA）是一种常染色体隐性疾病，由丙酰辅酶A羧化酶（PCC）基因缺陷引起。分别编码PCC的α和β亚基的PCCA和PCCB基因中的缺陷是导致PA的原因。先前已证明一名PA先证者携带PCCB基因中的c1170insT突变和罕见的L519P突变。在此，我们报告基于绒毛膜绒毛组织中的DNA分析对一名患病胎儿进行的产前诊断。我们还评估了这个PCCB缺陷家族中的携带者状态，而这通过生化分析是无法做到的。
