Correlation between genotype and phenotype in patients with cystic fibrosis.
Correlation between genotype and phenotype in patients with cystic fibrosis.
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囊性纤维化患者基因型与表型的相关性。
DOI：
10.1056/nejm199310283291804
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
CysticFibrosisGenotype-PhenotypeConsortium
中科院分区：
文献类型：
--
作者：
CysticFibrosisGenotype-PhenotypeConsortium
囊性纤维化是白人中最常见的致死性常染色体隐性遗传病。72%的患者是7号染色体上囊性纤维化跨膜传导调节基因的8种突变的纯合子或复合杂合子：δF508、G542 X、R553 X、W1282 X、N1303 K、621+1G-to-T、1717-1G-to-A和R117 H。方法将399例δ F508与另一种突变复合杂合子的患者与同一中心年龄最接近的同性别δ F508纯合子进行配对。对以下结局变量进行配对分析：诊断时的年龄、汗液氯化物浓度、生长曲线、肺功能值、胸片评分、假结肠定植、鼻息肉、胰腺功能不全、胰腺炎、糖尿病、胎粪性肠梗阻、远端肠梗阻综合征、直肠脱垂、肝硬化，结果具有R117 H/δ F508基因型的复合杂合子明显不同于年龄和性别匹配的δ F508纯合子：他们的胰腺功能更充足（87%对4%，P<0.001），首次诊断时年龄较大（平均[±SD]年龄，10.2 ±10.5 vs. 2.5 ±4.3岁; P = 0.002），汗液氯化物浓度较低（80 ±18 vs. 108 ±14 mmol/L，P<0.001）。δ F508纯合子和其他复合杂合子之间的任何变量tested.ConclusionsPrenatal和预后咨询与R117 H/δ F508基因型的患者应包括可能性，他们将有长期的胰腺功能不全。其他基因型的患者应期待胰腺功能不全的早期发作。因为所研究的基因型都不能预测常见并发症的发生或肺部疾病的严重程度或病程。
BackgroundCystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: δF508, G542X, R553X, W1282X, N1303K, 621+1G-to-T, 1717-1G-to-A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries.MethodsEach of 399 patients who were compound heterozygotes for δF508and one other mutation was matched with the δF508homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles, pulmonary-function values, chest-film score, pseudomonas colonization, nasal polyps, pancreatic sufficiency, pancreatitis, diabetes mellitus, meconium ileus, distal intestinal obstruction syndrome, rectal prolapse, cirrhosis, and gallbladder disease.ResultsThe compound heterozygotes having the genotype R117H/δF508clearly differed from the age- and sex-matched δF508homozygotes: they more often had pancreatic sufficiency (87 percent vs. 4 percent, P<0.001), were older when the diagnosis was first made (mean [±SD] age, 10.2 ±10.5 vs. 2.5 ±4.3 years; P = 0.002), and had lower sweat chloride concentrations (80 ±18 vs. 108 ±14 mmol per liter, P<0.001). There were no statistically significant differences between δF508homozygotes and other compound heterozygotes with regard to any variable tested.ConclusionsPrenatal and prognostic counseling for patients with the R117H/δF508genotype should include the likelihood that they will have long-term pancreatic sufficiency. Patients with the other genotypes should expect the early onset of pancreatic insufficiency. For none of the genotypes studied can predictions be made about the occurrence of common complications or the severity or course of pulmonary disease.
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对一百五名囊性纤维化患者的长期研究；
DOI：
--
发表时间：
1958
期刊：
A M A Journal of Diseases of Children
影响因子：
--
作者：
H. Shwachman;L. Kulczycki
通讯作者：
L. Kulczycki
影响因子：
56.9
作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
通讯作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
囊性纤维化：临床状态与 F508 缺失之间的关系。
DOI：
10.1016/s0022-3476(05)80490-1
发表时间：
1991
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Campbell3rd,PW;Phillips3rd,JA;Krishnamani,MR;Maness,KJ;Hazinski,TA
通讯作者：
Hazinski,TA
9 名 CFTR 无义突变 R1162X 纯合的囊性纤维化患者患有轻度或中度肺部疾病。
影响因子：
4
作者：
P. Gasparini;G. Borgo;G. Mastella;A. Bonizzato;M. Dognini;P. Pignatti
通讯作者：
P. Pignatti
囊性纤维化患者完全植入式静脉通路装置的非典型血栓和脓毒症并发症
影响因子：
3.1
作者：
J. Sola;M. Stone;B. Wise;P. Colombani
通讯作者：
P. Colombani