Suppr超能文献

具有可能的常染色体显性遗传的家族性铁过载。

Familial iron overload with possible autosomal dominant inheritance.

作者信息

Eason R J, Adams P C, Aston C E, Searle J

机构信息

Helena Goldie Hospital, Munda, Solomon Islands.

出版信息

Aust N Z J Med. 1990 Jun;20(3):226-30. doi: 10.1111/j.1445-5994.1990.tb01024.x.

Abstract

A 96 member Melanesian kindred with 31 cases of iron overload is reported. Liver biopsies from 19 of these patients showed features similar to those of genetic haemochromatosis in Caucasians, but in contrast to the previous reported HLA-linked autosomal recessive pattern of inheritance for haemochromatosis, this family shows a pattern that is most consistent with autosomal dominant inheritance. This is suggested by involvement of three and possibly four consecutive generations, with a high frequency of transmission from parents to children and equal gender distribution. Linkage and segregation analysis supported dominant inheritance, with no demonstrable HLA linkage.

摘要

报告了一个有96名成员的美拉尼西亚家族,其中31人患有铁过载。对其中19名患者进行的肝脏活检显示,其特征与高加索人中的遗传性血色素沉着症相似,但与之前报道的血色素沉着症的HLA连锁常染色体隐性遗传模式不同,这个家族呈现出与常染色体显性遗传最为一致的模式。这一点由连续三代(可能四代)受累、父母向子女的高传递频率以及性别分布均等所表明。连锁和分离分析支持显性遗传,且未发现与HLA的连锁关系。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验