P67L：一种在苏格兰人群中高频发现的、具有轻度效应的囊性纤维化等位基因。
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
作者信息
Gilfillan A, Warner J P, Kirk J M, Marshall T, Greening A, Ho L P, Hargreave T, Stack B, McIntyre D, Davidson R, Dean J C, Middleton W, Brock D J
机构信息
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
出版信息
J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122.
Abstract
Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride concentrations, the average value being 57 +/- 9 mmol/l; 77% of the patients were pancreatic sufficient. When compared to three other established mild CF alleles, R117H, A455E, and 3849 + 10kb C-T, a compound heterozygote for P67L has minimal disease and clinical suspicions are unlikely to be confirmed other than by DNA typing.
摘要
迄今为止，只有三种突变的囊性纤维化（CF）等位基因被证实对复合杂合子的患病个体具有显性轻度影响。我们现在又发现了第四种，即P67L，它出现在约1.4%的苏格兰CF染色体上。在13名携带此等位基因的患者（12名无亲缘关系）中，诊断时的平均年龄为22.5±11.3岁。所有病例的汗液氯化物浓度均未持续升高，平均值为57±9 mmol/l；77%的患者胰腺功能正常。与其他三种已确定的轻度CF等位基因R117H、A455E和3849 + 10kb C-T相比，P67L的复合杂合子疾病程度最轻，除了通过DNA分型外，临床怀疑不太可能得到证实。
相似文献
1
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.P67L：一种在苏格兰人群中高频发现的、具有轻度效应的囊性纤维化等位基因。
J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122.
2
The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.
Clin Genet. 1998 Jan;53(1):47-9. doi: 10.1034/j.1399-0004.1998.531530109.x.
3
Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L.对携带罕见CFTR突变P67L的患者的囊性纤维化疾病进展进行建模。
J Cyst Fibros. 2017 May;16(3):335-341. doi: 10.1016/j.jcf.2017.03.008. Epub 2017 Apr 5.
4
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.携带A455E突变的囊性纤维化复合杂合子患者的基因型-表型相关性
Hum Genet. 1997 Dec;101(2):208-11. doi: 10.1007/s004390050616.
5
Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis.F508囊性纤维化纯合子或杂合子婴儿的汗液氯化物浓度。
Pediatrics. 1996 Apr;97(4):524-8.
6
[Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].[囊性纤维化患者基因突变与胰腺外分泌功能的关系]
Srp Arh Celok Lek. 2001 May-Jun;129 Suppl 1:6-9.
7
The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.苏格兰人群中不同囊性纤维化突变的发生率：对产前诊断和遗传咨询的影响。
J Med Genet. 1991 May;28(5):317-21. doi: 10.1136/jmg.28.5.317.
8
The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.囊性纤维化中外分泌胰腺的变化面貌：胰腺状态、胰腺炎与囊性纤维化基因型之间的相关性。
Eur J Gastroenterol Hepatol. 2008 Mar;20(3):164-8. doi: 10.1097/MEG.0b013e3282f36d04.
9
Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.
Am J Med Genet. 1998 Apr 1;76(4):288-90.
10
Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.携带囊性纤维化突变3849 + 10kbC>T的纯合子和复合杂合子的临床谱：对遗传学家的意义
Am J Med Genet. 1995 Sep 25;58(4):356-9. doi: 10.1002/ajmg.1320580411.
引用本文的文献
1
Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.囊性纤维化跨膜传导调节因子折叠突变揭示了与未成熟囊性纤维化跨膜传导调节因子表达增加相关的校正剂疗效差异。
Front Physiol. 2021 Oct 26;12:695767. doi: 10.3389/fphys.2021.695767. eCollection 2021.
2
Ubiquitination of disease-causing CFTR variants in a microsome-based assay.基于微粒体的测定法中致病 CFTR 变体的泛素化。
Anal Biochem. 2020 Sep 1;604:113829. doi: 10.1016/j.ab.2020.113829. Epub 2020 Jul 1.
3
Analysis of cystic fibrosis-associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases.囊性纤维化相关的P67L型囊性纤维化跨膜传导调节因子分析揭示了罕见病个性化治疗的障碍。
JCI Insight. 2016 Sep 8;1(14). doi: 10.1172/jci.insight.86581.
4
Genotype-phenotype correlation for pulmonary function in cystic fibrosis.囊性纤维化患者肺功能的基因型-表型相关性
Thorax. 2005 Jul;60(7):558-63. doi: 10.1136/thx.2004.031153.
本文引用的文献
1
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.利用荧光多重微卫星来定义与来自英国的75种CFTR突变相关的单倍型，这些突变存在于437条囊性纤维化（CF）染色体上。
Hum Mutat. 1996;8(3):229-35. doi: 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4.
2
The molecular basis for disease variability in cystic fibrosis.
Eur J Hum Genet. 1996;4(2):65-73. doi: 10.1159/000472174.
3
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.携带3849 + 10 kb C→T突变的患者出现轻度囊性纤维化且汗液试验结果正常或接近临界值。
Lancet. 1993 Jul 3;342(8862):25-6. doi: 10.1016/0140-6736(93)91885-p.
4
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.一种用于同时检测10种常见囊性纤维化突变的单管多重检测系统。
Hum Mutat. 1995;5(3):260-2. doi: 10.1002/humu.1380050311.
5
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.患有肺部疾病但汗液氯化物浓度正常的患者中囊性纤维化基因的一种新突变。
N Engl J Med. 1994 Oct 13;331(15):974-80. doi: 10.1056/NEJM199410133311503.
6
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.在与囊性纤维化基因的两个假定核苷酸（ATP）结合折叠相对应的区域中鉴定突变。
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447.
7
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。
N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.
8
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.法国囊性纤维化患者CFTR基因中的三个点突变：通过变性梯度凝胶电泳鉴定。
Hum Genet. 1990 Sep;85(4):446-9. doi: 10.1007/BF02428305.
9
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.一名儿童，其11号外显子中的终止密码子为纯合子，相较于她的杂合子侄子，囊性纤维化症状较轻。
J Med Genet. 1990 Nov;27(11):717-9. doi: 10.1136/jmg.27.11.717.
10
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因第1至8外显子突变的鉴定。
Genomics. 1991 May;10(1):229-35. doi: 10.1016/0888-7543(91)90504-8.
Zotero 插件