Malone G, Haworth A, Schwarz M J, Cuppens H, Super M
North West Regional Molecular Genetics Laboratory, Royal Manchester Children's Hospital, Manchester, UK.
Hum Mutat. 1998;11(2):152-7. doi: 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L.
We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics laboratories). Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients. Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families. In addition, a novel polymorphism, 297-67(A/C), and three previously described rare mutations, 1525-1(G>A), R560S, and 1898+1(G>T), were detected. In the 14 Pakistani CF patients from the north west of England, DeltaF508 accounted for approximately 32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was approximately 86% (24/28 chromosomes).
我们分析了居住在英国的26名巴基斯坦囊性纤维化（CF）患者的DNA样本（14名来自居住在英格兰西北部的患者，他们被直接转诊至西北地区分子遗传学实验室，12名来自其他地区分子遗传学实验室）。在英国本土CF患者中发现的56种突变中，巴基斯坦患者仅检测到了ΔF508、R709X和2184insA。联合单链构象多态性/异源双链分析、变性梯度凝胶电泳和直接DNA循环测序揭示了5种新突变：Y569D、Q98X、296 + 12（T>C）、1161delC和621 + 2（T>C），这些突变似乎是巴基斯坦CF家族所特有的。此外，还检测到一种新的多态性297 - 67（A/C）以及3种先前描述的罕见突变1525 - 1（G>A）、R560S和1898 + 1（G>T）。在来自英格兰西北部的14名巴基斯坦CF患者中，ΔF508约占32%（9/28条染色体），该组CF突变的总体检出率约为86%（24/28条染色体）。
