期刊
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
卷 21, 期 1, 页码 18-20出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/13506129.2013.860027
关键词
Amyloidosis-hereditary-neuropathic; ATTRV30M (p.ATTRV50M); frequency; genotyping; mutation; transthyretin; TTR c.(Val50Met)
资金
- European Framework Program - the EURAMY project
- Swedish Heart and Lung Foundation
- ALF grant from Umea University hospital
- Vasterbotten County
- FAMY Vasterbotten/Norrbotten
- AMYL
By genotyping a large number of samples from the Northern Sweden Health and Disease Study cohort, a carrier frequency could be determined for the Skelleftea and Lycksele populations. A previous study of the amyloidogenic transthyretin mutation TTRV30M in Northern Sweden's endemic area has shown a large variation in carrier frequency and penetrance of the trait within the area. However, the estimations have been based on a small sample size within the different regions in the area and therefore, the wide variation in TTRV30M carrier frequency observed between the Lycksele and Skelleftea populations are uncertain. Based on a total of 3460 samples, the estimated overall carrier frequency in the two regions was 1.82% with a carrier frequency in the Skelleftea and Lycksele population of 1.63% and 2.02%, respectively. Thus, the previously reported extremely high frequency in the Lycksele region compared to that of the Skelleftea region could not be substantiated. However, it does not change the previous finding of a surprisingly higher carrier frequency in the population from endemic area of Northern Sweden compared to that reported from endemic areas in Portugal.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据