Lee J S, Lindsten J, Anvret M
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Hum Genet. 1990 Feb;84(3):241-3. doi: 10.1007/BF00200567.
Acute intermittent porphyria (AIP) is due to a defect in porphobilinogen deaminase (PBGD, E.C. 4.1.3.8) inherited as an autosomal dominant trait. Presymptomatic carrier detection is important in order to avoid exposure to factors inducing severe clinical symptoms. Carriers and noncarriers of the AIP gene can be distinguished by linkage analysis using three intragenic RFLPs in AIP families. In the present study, the polymerase chain reaction (PCR) was used to amplify 3.3-kb genomic sequences covering three polymorphic sites. Haplotypes were identified after cleavage of amplified products with three restriction enzymes, showing that the technique can be successfully used for linkage analysis in AIP families.
急性间歇性卟啉病（AIP）是由于卟胆原脱氨酶（PBGD，E.C. 4.1.3.8）缺陷所致，呈常染色体显性遗传。进行症状前携带者检测对于避免接触诱发严重临床症状的因素很重要。在AIP家族中，可通过连锁分析利用三个基因内限制性片段长度多态性（RFLP）来区分AIP基因的携带者和非携带者。在本研究中，采用聚合酶链反应（PCR）扩增覆盖三个多态性位点的3.3-kb基因组序列。用三种限制性内切酶切割扩增产物后确定单倍型，表明该技术可成功用于AIP家族的连锁分析。
