Korean Journal of Laboratory Medicine最新文献_第6页

Utility of ELISA optical density values and clinical scores for the diagnosis of and thrombosis prediction in heparin-induced thrombocytopenia. ELISA光密度值和临床评分在肝素性血小板减少症诊断和血栓形成预测中的应用。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.1

Seon Young Kim, Hyun Kyung Kim, Kyou Sup Han, Inho Kim, Sung-Soo Yoon, Seonyang Park, Byoung Kook Kim

{"title":"Utility of ELISA optical density values and clinical scores for the diagnosis of and thrombosis prediction in heparin-induced thrombocytopenia.","authors":"Seon Young Kim, Hyun Kyung Kim, Kyou Sup Han, Inho Kim, Sung-Soo Yoon, Seonyang Park, Byoung Kook Kim","doi":"10.3343/kjlm.2011.31.1.1","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.1","url":null,"abstract":"Background: Heparin-induced thrombocytopenia (HIT) is an adverse drug reaction caused by antibodies to the heparin/platelet factor 4 (PF4) complex, resulting in thrombocytopenia and prothrombotic state. HIT diagnosis is challenging and depends on clinical presentation and laboratory tests. We investigated the usefulness of clinical scores and heparin/PF4 ELISA optical density (OD) as a diagnostic marker and thrombosis predictor in HIT.Methods: We analyzed 92 patients with suspected HIT. The heparin/PF4 antibody was measured using a commercial ELISA kit (GTI, USA). For each patient, the 4 T's score and Chong's score were calculated.Results: Of the 92 patients, 28 were anti-heparin/PF4-seropositive. The 4 T's score and Chong's score showed good correlation (r=0.874). The 4 T's score and OD values showed good performance for diagnosis of the definite and unlikely HIT groups; however, OD levels showed better sensitivity (93.8%) than the 4 T's score used alone (62.5%). Of the 92 patients, 26 developed thrombosis. The OD values were significantly higher in patients with thrombosis than in those without thrombosis (0.52 vs. 0.22, P<0.001). Patients with high OD values (OD>0.4) had an increased risk of thrombosis (adjusted odds ratio 9.44 [3.35-26.6], P<0.001) and a shorter 250-day thrombosis-free survival (32.1% vs. 54.7%, P=0.012).Conclusions: ELISA OD values in combination with clinical scoring can improve the diagnosis of and thrombosis prediction in HIT. More attention should be paid to the use of clinical scores and OD values as thrombosis predictors in HIT.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 12

The effects of anti-insulin antibodies and cross-reactivity with human recombinant insulin analogues in the E170 insulin immunometric assay. 抗胰岛素抗体及其与人重组胰岛素类似物在E170胰岛素免疫测定中的交叉反应性的影响。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.22

Serim Kim, Yeo Min Yun, Mina Hur, Hee Won Moon, Jin Q Kim

{"title":"The effects of anti-insulin antibodies and cross-reactivity with human recombinant insulin analogues in the E170 insulin immunometric assay.","authors":"Serim Kim, Yeo Min Yun, Mina Hur, Hee Won Moon, Jin Q Kim","doi":"10.3343/kjlm.2011.31.1.22","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.22","url":null,"abstract":"Background Insulin assays are affected by varying degrees of interference from anti-insulin antibodies (IAs) and by cross-reactivity with recombinant insulin analogues. We evaluated the usefulness of the E170 insulin assay by assessing IA effects and cross-reactivity with 2 analogues. Methods Sera were obtained from 59 type 2 diabetes patients receiving continuous subcutaneous insulin infusion and 18 healthy controls. Insulin levels were determined using an E170 analyzer. To investigate the effects of IAs, we performed IA radioimmunoassays, and analyzed the differences between directly measured insulin (direct insulin) and polyethylene glycol (PEG)-treated insulins (free, IA-unbound; total, IA-bound and unbound insulin). We performed in-vitro cross-reactivity tests with insulin aspart and insulin glulisine. Results In IA-positive patients, E170 free insulin levels measured using the E170 analyzer were significantly lower than the direct insulin levels. The mean value of the direct/free insulin ratio and IA-bound insulin, which were calculated as the difference between total and free insulin, increased significantly as endogenous IA levels increased. The E170 insulin assay showed low cross-reactivities with both analogues (< 0.7%). Conclusions IAs interfered with E170 insulin assay, and the extent of interference correlated with the IA levels, which may be attributable to the increase in IA-bound insulin, and not to an error in the assay. The E170 insulin assay may measure only endogenous insulin since cross-reactivity is low. Our results suggest that the measurement of free insulin after PEG pre-treatment could be useful for β cell function assessment in diabetic patients undergoing insulin therapy.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"22-9"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.22","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Bacteremia caused by Corynebacterium amycolatum with a novel mutation in gyrA gene that confers high-level quinolone resistance. 由amycolatum棒状杆菌引起的菌血症与gyrA基因的新突变，赋予高水平的喹诺酮耐药性。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.47

Seoyoung Yoon, Heejung Kim, Yangsoon Lee, Sinyoung Kim

引用次数: 18

Acute promyelocytic leukemia presenting with central nervous system involvement: a report of 2 cases. 急性早幼粒细胞白血病累及中枢神经系统附2例报告。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.9

Misuk Ji, Hyun-Sook Chi, Seongsoo Jang, Chan-Jeoung Park, Jung-Hee Lee, Jong Jin Seo

{"title":"Acute promyelocytic leukemia presenting with central nervous system involvement: a report of 2 cases.","authors":"Misuk Ji, Hyun-Sook Chi, Seongsoo Jang, Chan-Jeoung Park, Jung-Hee Lee, Jong Jin Seo","doi":"10.3343/kjlm.2011.31.1.9","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.9","url":null,"abstract":"Central nervous system (CNS) involvement in acute promyelocytic leukemia (APL) is rare, and the presence of CNS symptoms at the time of diagnosis of APL is even rarer. We report 2 cases of APL presenting with CNS involvement. A 43-yr-old woman presented with easy bruising and stuporous mentality. Her complete blood count (CBC) revealed leukocytosis with increased blasts. Bone marrow (BM) analysis was carried out, and the diagnosis of APL was confirmed. This was done by cytogenetic analysis and demonstration of PML-RARα rearrangement by reverse transcriptase PCR in the BM cells. A lumbar puncture was performed to investigate the cause of her stuporous mentality, and her cerebrospinal fluid (CSF) analysis revealed 97% leukemic promyelocytes. Despite systemic and CNS therapy, she died due to septic shock by infection and rapid disease progression only 3 days after her admission. Another patient, a 3-yr-old girl, presented with easy bruising and epistaxis, and her CBC showed pancytopenia with increased blasts. BM studies confirmed APL. Quantitative PCR for PML-RARα in the BM cells revealed a PML-RARα/ABL ratio of 0.33 and CSF analysis revealed 9.5% leukemic promyelocytes (2 of 21 cells). She received induction chemotherapy and intrathecal therapy and achieved complete remission (CR) in the BM and CNS. She has been maintained in the CR status for the past 31 months. Thus, patients with APL must be evaluated for CNS involvement if any neurological symptoms are present at the time of diagnosis.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"9-12"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency. 2例韩国中链酰基辅酶a脱氢酶缺乏症的临床、生化和遗传分析。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.54

Hye In Woo, Hyung-Doo Park, Yong-Wha Lee, Dong Hwan Lee, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim

{"title":"Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.","authors":"Hye In Woo, Hyung-Doo Park, Yong-Wha Lee, Dong Hwan Lee, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim","doi":"10.3343/kjlm.2011.31.1.54","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.54","url":null,"abstract":"Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2 Korean pediatric cases of MCADD, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. We detected asymptomatic patients with MCADD by using a newborn screening test and confirmed it by ACADM mutation analysis. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, to the best of our knowledge, this is the first report of the c.461T>G mutation in the ACADM gene.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"54-60"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.54","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 14

A case of monoclonal gammopathy in extranodal marginal zone B-cell lymphoma of the small intestine. 小肠结外边缘区b细胞淋巴瘤单克隆性伽玛病1例。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.18

Do Yeun Kim, Yong-Seok Kim, Hee Jin Huh, Jong Sun Choi, Jeong Seok Yeo, Beom Seok Kwak, Seok Lae Chae

引用次数: 9

Distribution of virulence genes in spa types of methicillin-resistant Staphylococcus aureus isolated from patients in intensive care units. 重症监护病房患者分离的spa型耐甲氧西林金黄色葡萄球菌毒力基因分布

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.30

Taeksoo Kim, Jongyoun Yi, Ki Ho Hong, Jeong-Su Park, Eui-Chong Kim

{"title":"Distribution of virulence genes in spa types of methicillin-resistant Staphylococcus aureus isolated from patients in intensive care units.","authors":"Taeksoo Kim, Jongyoun Yi, Ki Ho Hong, Jeong-Su Park, Eui-Chong Kim","doi":"10.3343/kjlm.2011.31.1.30","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.30","url":null,"abstract":"Background: Various virulence factors and superantigens are encoded by mobile genetic elements. The relationship between clonal background and virulence factors differs in different geographic regions. We compared the distribution and relationship of spa types and virulence genes among methicillin-resistant Staphylococcus aureus (MRSA) strains isolated from a tertiary hospital in 2000-01 and 2007-08.Methods: In 2000-01 and 2007-08, 94 MRSA strains were collected from 3 intensive care units at a Korean tertiary hospital. We performed spa typing and multiplex PCR for 19 superantigen genes.Results: Relatively frequent spa types were t037 (40.5%), t002, t601, and t2138 in 2000-01, and t2460 (43.9%), t002, t037, t601, t324, and t2139 in 2007-08. We identified 4 novel spa types, 2 of which were designated as t5076 and t5079. Superantigen profiles were closely linked to spa types. For example, sea, sek, and seq superantigen genes were mainly detected in t037 strains.Conclusions: Major spa types differed depending on study periods, and the distribution of superantigen genes correlated with spa type.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"30-6"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.30","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 26

Application of single-nucleotide polymorphism and mycobacterial interspersed repetitive units-variable number of tandem repeats analyses to clinical Mycobacterium tuberculosis isolates from Korea. 单核苷酸多态性和分枝杆菌穿插重复单元-可变数目串联重复序列分析在韩国结核分枝杆菌临床分离株中的应用。

Korean Journal of Laboratory Medicine Pub Date : 2011-01-01 DOI: 10.3343/kjlm.2011.31.1.37

Go Eun Choi, Mi Hee Jang, Hyun-Jung Cho, Sun Min Lee, Jongyoun Yi, Eun Yup Lee, Chulhun L Chang, Yeong Dae Kim, Moon-Bum Kim

{"title":"Application of single-nucleotide polymorphism and mycobacterial interspersed repetitive units-variable number of tandem repeats analyses to clinical Mycobacterium tuberculosis isolates from Korea.","authors":"Go Eun Choi, Mi Hee Jang, Hyun-Jung Cho, Sun Min Lee, Jongyoun Yi, Eun Yup Lee, Chulhun L Chang, Yeong Dae Kim, Moon-Bum Kim","doi":"10.3343/kjlm.2011.31.1.37","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.37","url":null,"abstract":"Background: Single-nucleotide polymorphism (SNP) analysis is a powerful strategy for large-scale molecular population studies examining phylogenetic relationships among bacterial strains. Mycobacterial interspersed repetitive units-variable number of tandem repeats (MIRU-VNTR) can be easily digitized to share data among laboratories. This study applied SNP and MIRU-VNTR analyses for molecular strain typing of Mycobacterium tuberculosis isolates collected throughout Korea.Methods: We studied 102 clinical M. tuberculosis isolates, including 6 paired strains, collected from 11 university hospitals in Korea in 2008 and 2009. SNPs were detected using hairpin primer assays, and then, MIRU-VNTR analysis was performed.Results: Thirty-five SNPs contained polymorphisms that helped differentiate the 96 tested isolates. The isolates were classified into 15 clusters. The Beijing family strains were distributed within closely related clusters in the SNP dendrogram. For MIRU-VNTR analysis, the 96 isolates were divided into 12 groups. The discriminatory index in 8 of these groups (MIRU-10, -23, -26, and -31; ETR-A, -B, -C, and -F) was high (Hunter-Gaston diversity index > 0.6). Unlike the SNP method, MIRU-VNTR analysis did not identify any notable localizations of Beijing or non-Beijing family isolates in specific clusters.Conclusions: SNP and MIRU-VNTR analyses are surrogate molecular strain-typing methods for M. tuberculosis in Korea where Beijing family isolates are predominant.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"37-43"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.37","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

[Epidemiological analysis of norovirus infection between March 2007 and February 2010]. [2007年3月至2010年2月诺如病毒感染的流行病学分析]。

Korean Journal of Laboratory Medicine Pub Date : 2010-12-01 DOI: 10.3343/kjlm.2010.30.6.647

Dong-Jin Park, Jae-Seok Kim, Ji-Young Park, Han-Sung Kim, Wonkeun Song, Hyun Soo Kim, Mina Hur, Kyu Man Lee

{"title":"[Epidemiological analysis of norovirus infection between March 2007 and February 2010].","authors":"Dong-Jin Park, Jae-Seok Kim, Ji-Young Park, Han-Sung Kim, Wonkeun Song, Hyun Soo Kim, Mina Hur, Kyu Man Lee","doi":"10.3343/kjlm.2010.30.6.647","DOIUrl":"https://doi.org/10.3343/kjlm.2010.30.6.647","url":null,"abstract":"Background: Norovirus is a common cause of non-bacterial acute gastroenteritis worldwide, and norovirus infection shows symptoms such as vomiting and diarrhea in patients of all age groups. Mass outbreaks of norovirus infection have been recently reported in Korea. Herein, we investigated the epidemiological characteristics of acute norovirus gastroenteritis.Methods: We analyzed 11,219 fecal specimens of patients with acute gastroenteritis symptoms from the 5 participating hospitals for 3 yr (March 2007-February 2010) to determine positive rates of detection using RIDASCREEN Norovirus ELISA (R-Biopharm AG, Germany) kit by year, prevalence season, sex, age, and region.Results: Norovirus infection was prevalent during autumn and winter, and 13.0% specimens were positive for the infection. The positive rates of norovirus detection were 16.2%, 13.8%, and 9.9% in 2007, 2008, and 2009, respectively, and they tended to decrease every year. In 2007 and 2008, the epidemicity of norovirus started from October, reached its peak in November, and lasted until January. However, in 2009, it started from December, reached its peak in January, and lasted until February. Most patients were 0-3 yr old and this patient group had the highest positive rate. There was no significant inter-regional difference among the subjects.Conclusions: We performed epidemiological analysis of norovirus infection using ELISA assay. Reverse transcription-PCR indicated higher prevalence of norovirus infection as compared with that reported before 2007. Further studies are warranted to examine the changes observed in the epidemic period of 2009.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"30 6","pages":"647-53"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29535162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 12

[JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms]. [韩国BCR/ abl1阴性骨髓增生性肿瘤患者JAK2 V617F和外显子12的遗传变异]。

Korean Journal of Laboratory Medicine Pub Date : 2010-12-01 DOI: 10.3343/kjlm.2010.30.6.567

Jeong Tae Kim, Yong Gon Cho, Sam Im Choi, Young Jin Lee, Hye Ran Kim, Sook Jin Jang, Dae Soo Moon, Young Jin Park, Geon Park

{"title":"[JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms].","authors":"Jeong Tae Kim, Yong Gon Cho, Sam Im Choi, Young Jin Lee, Hye Ran Kim, Sook Jin Jang, Dae Soo Moon, Young Jin Park, Geon Park","doi":"10.3343/kjlm.2010.30.6.567","DOIUrl":"https://doi.org/10.3343/kjlm.2010.30.6.567","url":null,"abstract":"Background: JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN.Methods: We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects.Results: JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6; 95% confidences interval, 1.3-5.1; P=0.007).Conclusions: Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN.","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"30 6","pages":"567-74"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6