使用扩展的泛种族突变检测板改进对美国异质人群中囊性纤维化突变的检测。
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
作者信息
Heim R A, Sugarman E A, Allitto B A
机构信息
Molecular Diagnostic Laboratory, Genzyme Genetics, Framingham, Massachusetts 01701-9322, USA.
出版信息
Genet Med. 2001 May-Jun;3(3):168-76. doi: 10.1097/00125817-200105000-00004.
PURPOSE
To determine the comparative frequency of 93 CFTR mutations in U.S. individuals with a clinical diagnosis of cystic fibrosis (CF).
METHODS
A total of 5,840 CF chromosomes from Caucasians, Ashkenazi Jews, Hispanics, African Americans, Native Americans, Asians, and individuals of mixed race were analyzed using a pooled ASO hybridization strategy.
RESULTS
Sixty-four mutations provided a sensitivity of 70% to 95% in all ethnic groups except Asians, and at least 81% when the U.S. population was considered as a whole.
CONCLUSIONS
For population-based carrier screening for CF in the heterogeneous U.S. population, which is characterized by increasing admixture, a pan-ethnic mutation panel of 50 to 70 CFTR mutations may provide a practical test that maximizes sensitivity.
目的
确定临床诊断为囊性纤维化（CF）的美国个体中93种CFTR突变的相对频率。
方法
采用混合等位基因特异性寡核苷酸杂交策略，对来自高加索人、德系犹太人、西班牙裔、非裔美国人、美洲原住民、亚洲人以及混血个体的总共5840条CF染色体进行了分析。
结果
除亚洲人外，64种突变在所有种族群体中的检测灵敏度为70%至95%，若将美国人群视为一个整体，检测灵敏度至少为81%。
结论
对于以混血情况不断增加为特征的异质性美国人群进行基于人群的CF携带者筛查，一个包含50至70种CFTR突变的泛种族突变检测组合可能会提供一种灵敏度最大化的实用检测方法。
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