Hoffman R A, Floyd M E, Whetsell L H, Kramer J C, Schaefer F V
H. A. Chapman Research Institute, Children's Medical Center, Tulsa, Oklahoma 74135.
Am J Med Sci. 1994 Feb;307(2):82-5. doi: 10.1097/00000441-199402000-00002.
The identification of different mutations that cause cystic fibrosis in the people of Kansas and Oklahoma has been performed by examining 124 independent cystic fibrosis genes for the 14 most commonly mutated loci. The delta F508 3bp deletion represented 79% of the alleles, and 7% of the remaining alleles were found to harbor the mutations of R553X, G542X, or G551D. None of the remaining 10 common mutations were identified. This pattern of results contrasts with the patterns found in major cities of the United States. The ethnic diversity in these cities is much greater than in the southern Midwest region, and the remaining mutations, therefore, may represent specific ethnic contributions absent in the Midwest population studies. These results directly affect the counseling given to the Midwest patient and impact on any strategies for screening.
通过检测124个独立的囊性纤维化基因中的14个最常见突变位点，已对堪萨斯州和俄克拉荷马州人群中导致囊性纤维化的不同突变进行了鉴定。ΔF508 3bp缺失占等位基因的79%，其余等位基因中有7%被发现携带R553X、G542X或G551D突变。未发现其余10种常见突变中的任何一种。这种结果模式与美国主要城市中发现的模式形成对比。这些城市的种族多样性远高于中西部南部地区，因此，其余突变可能代表中西部人群研究中不存在的特定种族贡献。这些结果直接影响给予中西部患者的咨询，并对任何筛查策略产生影响。
