CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION
CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION
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DOI：
10.1002/humu.1380030405
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发表时间：
1994-01-01
期刊：
影响因子：
3.9
通讯作者：
KALAYDJIEVA, L
中科院分区：
文献类型：
--
作者：
ANGELICHEVA, D;BOTEVA, K;KALAYDJIEVA, L
CFTR基因1677 delTA外显子10中的2 bp缺失在全世界CF染色体中非常罕见，被发现是位于黑海地区的国家中囊性纤维化的相对常见的原因。该突变的频率在来自几个人群的囊性纤维化患者中进行了比较，即塞浦路斯人，土耳其人，希腊塞浦路斯人，格鲁吉亚人和俄罗斯人。这种缺失在格鲁吉亚CF患者中最常见，在邻近人群中频率逐渐下降。它总是与一种常见的多态性单倍型有关，这种单倍型在保加利亚的正常染色体中很少见，但在土耳其很常见。突变频率的地理梯度，沿着多态性单倍型分布的结果，表明突变是相对年轻的进化和传播的结果，从格鲁吉亚向西和向南迁移。1677 delTA突变与严重的临床表型有关，在纯合子中具有较高的早期死亡率，并可能增加胎粪性肠梗阻的风险。(C)1994 Wiley-Liss，Inc.
A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek-Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south-bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus. (C) 1994 Wiley-Liss, Inc.