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红细胞生成性原卟啉症中的一种新型突变：RNA剪接过程中外显子跳跃导致的异常铁螯合酶mRNA。

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

作者信息

Wang X, Poh-Fitzpatrick M, Carriero D, Ostasiewicz L, Chen T, Taketani S, Piomelli S

机构信息

Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032.

出版信息

Biochim Biophys Acta. 1993 Apr 30;1181(2):198-200. doi: 10.1016/0925-4439(93)90112-e.

DOI:10.1016/0925-4439(93)90112-e
PMID:8481408
Abstract

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A-->T transversion at position -3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

摘要

在一名红细胞生成性原卟啉症（EPP）患者中发现了一种缺失第10外显子的异常铁螯合酶mRNA。在她的基因组DNA中，第10内含子供体位点-3处的A→T颠换似乎是外显子跳跃的原因。该患者及其妹妹均为这种突变的杂合子。

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