Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA 01581, USA.
Clin Chem. 2011 Jun;57(6):841-8. doi: 10.1373/clinchem.2010.159285. Epub 2011 Apr 7.
The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype.
An allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence detection were used in testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF.
One in 38 individuals carried one of the 98 CFTR mutations included in this panel. Of the 87 different mutations detected, 18 were limited to a single ethnic group. African American, Hispanic, and Asian individuals accounted for 33% of the individuals tested. The mutation frequency distribution of Caucasians was significantly different from that of each of these ethnic groups (P < 1 × 10⁻¹⁰).
Carrier testing using a broad mutation panel detects differences in the distribution of mutations among ethnic groups in the US.
囊性纤维化（CF）的发病率和特定致病突变的频率在不同人群中存在差异。受影响的个体经历一系列严重的临床后果，特别是肺部和胰腺疾病，这些疾病仅部分取决于基因型。
在对 364890 名无 CF 家族史的个体进行 CFTR[囊性纤维化跨膜电导调节因子（ATP 结合盒亚家族 C，成员 7）]98 种突变携带者检测时，使用等位基因特异性引物延伸反应、液相结合到珠阵列，以及随后的荧光检测。
每 38 个人中就有 1 人携带该面板中包含的 98 种 CFTR 突变之一。在所检测的 87 种不同突变中，有 18 种局限于单一族群。非裔美国人、西班牙裔和亚洲人占受检个体的 33%。白种人的突变频率分布与这三个族群中的任何一个族群都显著不同（P<1×10⁻¹⁰）。
使用广泛的突变面板进行携带者检测可检测美国不同族群中突变分布的差异。
