一名所罗门群岛患者的铁转运蛋白1新突变与血色素沉着症相关。
A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.
作者信息
Arden K E, Wallace D F, Dixon J L, Summerville L, Searle J W, Anderson G J, Ramm G A, Powell L W, Subramaniam V N
机构信息
Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Australia.
出版信息
Gut. 2003 Aug;52(8):1215-7. doi: 10.1136/gut.52.8.1215.
BACKGROUND
A severe form of iron overload with the clinicopathological features of haemochromatosis inherited in an autosomal dominant manner has been described in the Solomon Islands. The genetic basis of the disorder has not been identified. The disorder has similarities to type 4 haemochromatosis, which is caused by mutations in ferroportin1.
AIMS
The aims of this study were to identify the genetic basis of iron overload in a patient from the Solomon Islands.
PATIENT AND METHODS
Genomic DNA was isolated from peripheral blood leucocytes of a Solomon Islands man with severe iron overload. The entire coding region and splice sites of the ferroportin1 gene was sequenced.
RESULTS AND CONCLUSIONS
A novel missense mutation (431A>C; N144T) was identified in exon 5 of the ferroportin1 gene. A novel restriction endonuclease based assay which identifies both the N144T and N144H mutations was developed which will simplify the diagnosis and screening of patients for iron overload in the Solomon Islands and other populations. This is the first identified mutation associated with haemochromatosis in the Solomon Islands population.
背景
在所罗门群岛，已描述了一种以常染色体显性方式遗传的具有血色素沉着症临床病理特征的严重铁过载形式。该病症的遗传基础尚未确定。该病症与4型血色素沉着症相似，后者由铁转运蛋白1的突变引起。
目的
本研究的目的是确定一名来自所罗门群岛患者铁过载的遗传基础。
患者与方法
从一名患有严重铁过载的所罗门群岛男性的外周血白细胞中分离基因组DNA。对铁转运蛋白1基因的整个编码区和剪接位点进行测序。
结果与结论
在铁转运蛋白1基因的第5外显子中鉴定出一个新的错义突变（431A>C；N144T）。开发了一种基于新型限制性内切酶的检测方法，可鉴定N144T和N144H突变，这将简化所罗门群岛及其他人群中铁过载患者的诊断和筛查。这是在所罗门群岛人群中首次鉴定出的与血色素沉着症相关的突变。
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