两个患有急性间歇性卟啉症的瑞典家族中胆色素原脱氨酶基因内的DNA多态性
DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.
作者信息
Lee J S, Anvret M, Lindsten J, Lannfelt L, Gellerfors P, Wetterberg L, Floderus Y, Thunell S
机构信息
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
出版信息
Hum Genet. 1988 Aug;79(4):379-81. doi: 10.1007/BF00282182.
Two unrelated families with acute intermittent porphyria (AIP), an autosomal dominant disease related to a defect in porphobilinogen deaminase (PBG-D, EC 4.1.3.8.), were studied with regard to three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, BstNI) within the PBG-D gene. The results indicate that linkage analysis of RFLPs within the gene can be used as a complement to PBG-D analysis for the diagnosis of gene carriers in families with AIP.
对两个患有急性间歇性卟啉症（AIP）的无关家庭进行了研究，AIP是一种与卟胆原脱氨酶（PBG-D，EC 4.1.3.8.）缺陷相关的常染色体显性疾病，研究涉及PBG-D基因内的三种限制性片段长度多态性（RFLP）（MspI、PstI、BstNI）。结果表明，基因内RFLP的连锁分析可作为PBG-D分析的补充手段，用于诊断AIP家庭中的基因携带者。
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