Riedler J, Arrer E, Grabherr B
Kinderspital, Landeskrankenanstalten Salzburg.
Wien Klin Wochenschr. 1989 Sep 1;101(16):548-51.
Cystic Fibrosis (CF) is the most common genetically determined disease in Caucasians. Major advances in our understanding of the genetics of cystic fibrosis have occurred during the past couple of years. The CF gene has been localized at 7 q31 by the use of linkage analysis with protein and DNA polymorphisms. DNA probes showing close linkage to the CF gene have been discovered and are being used to identify the gene itself and also for purposes of genetic diagnosis. We investigated 35 blood samples from members of 8 CF families with the probes J3.11/MspI, metH/TaqI, metH/MspI, metD/TaqI and 7 c22/EcoRI. In 8 out of 11 siblings of our CF patients we got full information about the carrier status. Since we investigated the siblings as well as the parents of our patients, these results may be of benefit for a later prenatal diagnosis.
囊性纤维化（CF）是白种人中最常见的遗传性疾病。在过去几年里，我们对囊性纤维化遗传学的理解取得了重大进展。通过使用与蛋白质和DNA多态性的连锁分析，CF基因已定位在7q31。已发现与CF基因紧密连锁的DNA探针，并正用于识别基因本身以及进行基因诊断。我们用探针J3.11/MspI、metH/TaqI、metH/MspI、metD/TaqI和7c22/EcoRI对8个CF家系成员的35份血样进行了研究。在我们CF患者的11对同胞中，有8对获得了关于携带者状态的完整信息。由于我们研究了患者的同胞以及父母，这些结果可能有助于日后的产前诊断。
