Miedzybrodzka Z H, Dean J C, Russell G, Friend J A, Kelly K F, Haites N E
University of Aberdeen Department of Medicine and Therapeutics.
J Med Genet. 1993 Apr;30(4):316-7. doi: 10.1136/jmg.30.4.316.
We have identified all known sufferers of cystic fibrosis (CF) alive in the Grampian region, north east Scotland, on 1 January 1989. DNA samples were obtained for a prevalence study of the common mutations with near to complete ascertainment. A relatively high prevalence of the delta F508 mutation was found (82%), with one of four mutations being present on 92% of CF chromosomes. The high prevalence of these four easily detectable mutations in Grampian has local implications for genetic counselling, the efficacy of population carrier screening, and the usefulness of mutation analysis in cases where the diagnosis of CF is in doubt.
1989年1月1日，我们查明了苏格兰东北部格兰扁地区所有在世的囊性纤维化（CF）患者。采集了DNA样本，以进行常见突变的患病率研究，确定率接近100%。发现ΔF508突变的患病率相对较高（82%），92%的CF染色体上存在四种突变之一。格兰扁地区这四种易于检测的突变的高患病率对遗传咨询、人群携带者筛查的效果以及CF诊断存疑病例中突变分析的实用性具有当地意义。
