Liechti-Gallati S, Niederer B U, Schneider V, Mächler M, Alkan M, Malik N, Braga S, Moser H
Department of Pediatrics (Inselspital), University of Berne, Switzerland.
Clin Genet. 1990 Jun;37(6):442-9. doi: 10.1111/j.1399-0004.1990.tb03528.x.
A total of 295 patients, parents and unaffected sibs from 106 CF-families in central and northeastern Switzerland were investigated with probes 7C22(D7S16), metH, metD, pKM19, pXV-2c and pJ3.11(D7S8) for eight DNA polymorphisms (RFLP's). Linkage disequilibrium to the CF locus and haplotype frequencies were compared to those in other populations. They are comparable to other Caucasian populations and, for pKM 19 and pXV-2c, very close to the findings in Italy. The prevalence of certain haplotypes among the CF and the normal allele-bearing chromosomes indicate that the majority of the CF cases are probably the result of one ancient mutation in a common ancestor, but that there may be allelic heterogeneity accounting for an important proportion of patients, that may differ between countries or regions. Informative family constellations for the different polymorphisms in Switzerland and strategies for carrier detection and prenatal diagnosis are discussed. Haplotype analyses for each country and its ethnic subgroups are recommended.
对瑞士中部和东北部106个囊性纤维化（CF）家族的295名患者、父母及未患病的同胞进行了研究，使用探针7C22（D7S16）、metH、metD、pKM19、pXV - 2c和pJ3.11（D7S8）检测8种DNA多态性（限制性片段长度多态性，RFLP）。将与CF基因座的连锁不平衡和单倍型频率与其他人群进行了比较。它们与其他高加索人群相当，对于pKM19和pXV - 2c，与意大利的研究结果非常接近。CF染色体和正常等位基因携带染色体中某些单倍型的流行情况表明，大多数CF病例可能是共同祖先中一次古老突变的结果，但可能存在等位基因异质性，导致相当比例的患者情况不同，这种差异可能在不同国家或地区存在。讨论了瑞士不同多态性的信息丰富的家系组合以及携带者检测和产前诊断的策略。建议对每个国家及其种族亚组进行单倍型分析。
