Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
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DOI：
10.1056/nejm199809033391001
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发表时间：
1998-09-03
影响因子：
158.5
通讯作者：
Braganza, J
中科院分区：
文献类型：
--
作者：
Sharer, N;Schwarz, M;Braganza, J
背景胰腺囊性纤维化病变发生于子宫内，与慢性胰腺炎非常相似。因此，我们假设突变的囊性纤维化跨膜传导调节（CFTR）基因可能比预期的慢性pancreatitis.Methods患者中更常见，我们研究了134例慢性胰腺炎（酒精相关疾病71，甲状旁腺功能亢进2，高甘油三酯血症1，和特发性疾病60）。我们检测了CFTR基因的22种突变，这些突变占英格兰西北部囊性纤维化患者所有突变的95%。我们还确定了内含子8中胸苷非编码序列的长度，因为序列越短，正常CFTR信使RNA.Results的比例越低94名男性和40名女性患者的年龄范围从16至86岁。没有人在CFTR基因的两个拷贝上都有突变。18名患者（13.4%），包括12名无酒精中毒的患者，在一条染色体上有CFTR突变，而在600名有囊性纤维化家族史的患者的无亲属关系的伴侣中，CFTR突变的频率为5.3%（P
Background The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more common than expected among patients with chronic pancreatitis.Methods We studied 134 consecutive patients with chronic pancreatitis (alcohol-related disease in 71, hyperparathyroidism in 2, hypertriglyceridemia in 1, and idiopathic disease in 60). We examined DNA for 22 mutations of the CFTR gene that together account for 95 percent of all mutations in patients with cystic fibrosis in the northwest of England. We also determined the length of the noncoding sequence of thymidines in intron 8, since the shorter the sequence, the lower the proportion of normal CFTR messenger RNA.Results The 94 male and 40 female patients ranged in age from 16 to 86 years. None had a mutation on both copies of the CFTR gene. Eighteen patients (13.4 percent), including 12 without alcoholism, had a CFTR mutation on one chromosome, as compared with a frequency of 5.3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P