家族性迟发性皮肤卟啉症：尿卟啉原脱羧酶基因座的杂交分析

Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus.

作者信息

Hansen J L, O'Connell P, Romana M, Romeo P H, Kushner J P

机构信息

Division of Hematology and Oncology, University of Utah Medical Center, Salt Lake City.

出版信息

Hum Hered. 1988;38(5):283-6. doi: 10.1159/000153800.

DOI:10.1159/000153800

PMID:2906904

Abstract

Familial porphyria cutanea tarda (PCT) results from a deficiency of uroporphyrinogen decarboxylase (URO-D) activity. Hybridization analysis of genomic DNA from unrelated normal individuals and PCT pedigree members failed to detect any major deletions, rearrangements or restriction fragment length polymorphisms at the URO-D locus.

摘要

家族性迟发性皮肤卟啉症（PCT）是由尿卟啉原脱羧酶（URO-D）活性缺乏引起的。对无关正常个体和PCT家系成员的基因组DNA进行杂交分析，未能在URO-D基因座检测到任何主要的缺失、重排或限制性片段长度多态性。