Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

被引：19

作者：

Ong, PML

Lanyon, WG

Hift, RJ

Halkett, J

Moore, MR

Mgone, CS

Conner, JM

机构：

[1] MRC UCT LIVER RES CTR,CAPE TOWN,SOUTH AFRICA

[2] NATL RES CTR ENVIRONM TOXICOL,COOPERS PLAINS,QLD,AUSTRALIA

[3] PAPUA NEW GUINEA INST MED RES,DEPT HUMAN GENET,GOROKA,PAPUA N GUINEA

来源：

MOLECULAR AND CELLULAR PROBES | 1996年 / 10卷 / 01期

基金：

英国医学研究理事会;

关键词：

hydroxymethylbilane synthase; South African; acute intermittent porphyria; CpG dinucleotides;

D O I：

10.1006/mcpr.1996.0008

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We have screened the hydroxymethylbilane synthase cDNA from six South African patients with acute intermittent porphyria, using a combination of chemical cleavage mismatch analysis and direct sequencing of asymmetrically amplified PCR products. Four mutations were detected, a novel T insertion (771insT) and three missense mutations (R26H, R116W and R173Q). The 771insT mutation produces a stop codon, thirty-three codons downstream and a loss of approximately 20% of the protein is predicted. The R116W mutation, Which was found to have a high prevalence in the Dutch population, was detected in three unrelated South African patients. (C) 1996 Academic Press Limited

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收藏

页码：57 / 61

页数：5

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