Kilinç Mehmet Okyay, Ninis Vasiliki Ninidu, Dağli Elif, Demirkol Mübeccel, Ozkinay Ferda, Arikan Zeliha, Coğulu Ozgür, Hüner Gülden, Karakoç Fazilet, Tolun Aslihan
Department of Molecular Biology and Genetics, Boğaziçi University, Bebek 80815 Istanbul, Turkey.
Am J Med Genet. 2002 Dec 1;113(3):250-7. doi: 10.1002/ajmg.10721.
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 -3T > C and 3849 +5G > A), and one deletion (CFTRdele17b,18). The data showed that the Turkish population has the highest genetic heterogeneity at the CFTR locus reported so far. The results of this thorough molecular analysis at the CFTR locus of a population not of European descent shows that CF is not uncommon in all such populations. The large number of mutations present, as well as the high heterogeneity in haplotypes associated with the mutations suggests that most of the mutations have persisted for a long time in the population. Consistently, the carrier frequency is assessed to be high, indicating that the disease in the population is ancient.
我们分析了83名土耳其囊性纤维化患者的CFTR基因座，以确定突变、单倍型及该人群中的携带者频率。在总共166条CF染色体中的125条（75%）上检测到36种不同的突变。鉴定出7种新突变：4种错义突变（K68E、Q493P、E608G和V1147I）、2种剪接位点突变（406 -3T > C和3849 +5G > A）以及1种缺失突变（CFTRdele17b,18）。数据显示，土耳其人群在CFTR基因座上具有迄今为止报道的最高遗传异质性。对非欧洲血统人群的CFTR基因座进行的这种全面分子分析结果表明，CF在所有此类人群中并不罕见。存在的大量突变以及与这些突变相关的单倍型的高度异质性表明，大多数突变在该人群中已经存在了很长时间。一致地，携带者频率被评估为很高，这表明该人群中的这种疾病由来已久。
