家族性地中海热：土耳其安纳托利亚地区东部的一项回顾性临床和分子研究。
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
作者信息
Etem Ebru Onalan, Deveci Sukriye Derya, Erol Deniz, Yuce Huseyin, Elyas Halit
机构信息
Firat University, Firat University Hospital, Medical Biology and Genetic Department, 23119, Elazig, Turkey.
出版信息
Open Rheumatol J. 2010 Jan 29;4:1-6. doi: 10.2174/1874312901004010001.
Abstract
Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested individuals were screened for the most common twelve MEFV mutations. The most important features were the predominance of the M694V and E148Q mutations in patient group and the earlier of onset of the disease in M694V mutation carriers compared with the carriers of other mutations (P=0.00). We discuss the high frequency of E148Q mutations in patient group compared with controls, genetic counseling in intermarriage families and the variations in mutation frequency according to regions of Turkey.
摘要
家族性地中海热（FMF）是一种自身炎症性周期性疾病。我们旨在确定土耳其安纳托利亚东部地区地中海热（MEFV）基因突变的分布及频率，并在患者队列中进行基因型/表型相关性分析。该研究对415例临床诊断为土耳其FMF的患者及103名健康对照者展开。对受测个体筛查了12种最常见的MEFV突变。最重要的特征是患者组中M694V和E148Q突变占主导，且与其他突变携带者相比，M694V突变携带者的疾病发病更早（P = 0.00）。我们讨论了患者组中E148Q突变相对于对照组的高频率、近亲结婚家庭的遗传咨询以及土耳其不同地区突变频率的差异。
相似文献
1
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.家族性地中海热：土耳其安纳托利亚地区东部的一项回顾性临床和分子研究。
Open Rheumatol J. 2010 Jan 29;4:1-6. doi: 10.2174/1874312901004010001.
2
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia.土耳其 FMF 患者中 MEFV 突变的分布：代表安纳托利亚结果的多中心研究。
Turk J Med Sci. 2019 Apr 18;49(2):472-477. doi: 10.3906/sag-1809-100.
3
Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.土耳其人群中地中海热基因的突变频率及其与性别和基因型-表型的相关性
J Genet. 2015 Dec;94(4):629-35. doi: 10.1007/s12041-015-0568-z.
4
Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.安纳托利亚中部一大群疑似家族性地中海热患者中MEFV基因突变的患病率
Ann Saudi Med. 2019 Nov-Dec;39(6):382-387. doi: 10.5144/0256-4947.2019.382. Epub 2019 Dec 5.
5
Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).东安纳托利亚（土耳其）家族性地中海热患者的基因型-表型相关性
Genet Test Mol Biomarkers. 2010 Jun;14(3):325-8. doi: 10.1089/gtmb.2009.0189.
6
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.叙利亚人群中的家族性地中海热：基因突变频率、携带者率及表型-基因型相关性
Eur J Med Genet. 2006 Nov-Dec;49(6):481-6. doi: 10.1016/j.ejmg.2006.03.002. Epub 2006 Apr 3.
7
MEFV heterogeneity in Turkish Familial Mediterranean Fever patients.土耳其家族性地中海热患者中的MEFV基因异质性。
Mol Biol Rep. 2010 Jan;37(1):355-8. doi: 10.1007/s11033-009-9779-9.
8
Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.安纳托利亚中部地区土耳其患者家族性地中海热基因（MEFV）的突变谱：两种突变检测系统的比较
Genet Mol Res. 2013 Oct 29;12(4):5152-9. doi: 10.4238/2013.October.29.9.
9
The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).土耳其东部凡省MEFV基因突变与基因型谱及一种新突变（R361T）的报告
Gene. 2015 May 10;562(1):128-31. doi: 10.1016/j.gene.2015.02.059. Epub 2015 Feb 20.
10
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.土耳其东南部地中海地区（卡拉曼马拉什）家族性地中海热基因（MEFV）的序列分析报告。
Rheumatol Int. 2016 Jan;36(1):25-31. doi: 10.1007/s00296-015-3329-7. Epub 2015 Jul 28.
引用本文的文献
1
Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study.巴勒斯坦家族性地中海热儿童的基因型突变：临床特征及对秋水仙碱治疗的反应：一项回顾性队列研究
Mediterr J Rheumatol. 2023 Sep 12;34(3):332-341. doi: 10.31138/mjr.20230912.stm. eCollection 2023 Sep.
2
Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.埃及儿童复发性发热伴口腔病变：不可漏诊的家族性地中海热
Children (Basel). 2022 Oct 29;9(11):1654. doi: 10.3390/children9111654.
3
Familial Mediterranean fever: What associations to screen for?家族性地中海热：需要筛查哪些关联因素？
Reumatologia. 2020;58(3):150-154. doi: 10.5114/reum.2020.96688. Epub 2020 Jun 29.
4
Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.埃及患有家族性地中海热儿童的基因分型突变：临床概况及对秋水仙碱的反应
Mediterr J Rheumatol. 2020 Jun 15;31(2):206-213. doi: 10.31138/mjr.31.2.206. eCollection 2020 Jun.
5
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia.土耳其 FMF 患者中 MEFV 突变的分布：代表安纳托利亚结果的多中心研究。
Turk J Med Sci. 2019 Apr 18;49(2):472-477. doi: 10.3906/sag-1809-100.
6
Increased Frequency of Genes in Patients with Epigastric Pain Syndrome.上腹部疼痛综合征患者中基因频率增加。
Balkan J Med Genet. 2017 Dec 29;20(2):51-58. doi: 10.1515/bjmg-2017-0020. eCollection 2017 Dec.
7
8
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.家族性地中海热患者临床发现与基因突变之间的关系
Pediatr Rheumatol Online J. 2015 Dec 12;13:59. doi: 10.1186/s12969-015-0057-1.
9
The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.基里卡莱地区家族性地中海热基因突变和基因型的频率及其与土耳其地区 MEFV 突变频率平均值的比较。
Mol Biol Rep. 2014 Mar;41(3):1419-26. doi: 10.1007/s11033-013-2986-4. Epub 2014 Jan 1.
10
Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.一名携带家族性地中海热（FMF）和肿瘤坏死因子受体1综合征（TRAPS）基因突变的患者发生继发性淀粉样变性。
Clin Kidney J. 2013 Dec;6(6):613-617. doi: 10.1093/ckj/sft112. Epub 2013 Sep 24.
本文引用的文献
1
MEFV heterogeneity in Turkish Familial Mediterranean Fever patients.土耳其家族性地中海热患者中的MEFV基因异质性。
Mol Biol Rep. 2010 Jan;37(1):355-8. doi: 10.1007/s11033-009-9779-9.
2
Familial Mediterranean fever with a single MEFV mutation: where is the second hit?携带单个MEFV突变的家族性地中海热：第二次打击在哪里？
Arthritis Rheum. 2009 Jun;60(6):1851-61. doi: 10.1002/art.24569.
3
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.来自土耳其爱琴海地区的家族性地中海热患者的MEFV突变
Mol Biol Rep. 2010 Jan;37(1):93-8. doi: 10.1007/s11033-009-9543-1. Epub 2009 May 17.
4
Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.202例家族性地中海热患者的家族性地中海热基因突变分析。
Genet Test. 2008 Sep;12(3):341-4. doi: 10.1089/gte.2008.0009.
5
Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.土耳其人群中家族性地中海热患儿的基因型-表型相关性
Pediatr Int. 2008 Apr;50(2):208-12. doi: 10.1111/j.1442-200X.2008.02554.x.
6
Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.用于家族性地中海热分子诊断的聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和反向杂交方法结果的比较。
Genet Test. 2008 Mar;12(1):171-4. doi: 10.1089/gte.2007.0085.
7
Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features.土耳其东南部地区的家族性地中海热基因突变及其表型特征。
Amyloid. 2008 Mar;15(1):49-53. doi: 10.1080/13506120701815456.
8
MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected].土耳其黑海地区家族性地中海热患者的MEFV突变：萨姆松的经验[已修正]
J Rheumatol. 2008 Jan;35(1):106-13. Epub 2007 Dec 1.
9
Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness.共存的MEFV和CIAS1突变表现为家族性地中海热伴耳聋。
Ann Rheum Dis. 2007 Nov;66(11):1541. doi: 10.1136/ard.2007.075655.
10
Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations.难治性自身炎症综合征与低外显率肿瘤坏死因子受体相关周期性综合征和冷吡啉相关周期性综合征突变的双基因传递相关。
Ann Rheum Dis. 2006 Nov;65(11):1530-1. doi: 10.1136/ard.2006.054312.
Zotero 插件