中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2011年
8期
717-721
,共5页
Janus激酶类%红细胞增多症%真性%血小板增多%出血性%聚合酶链反应%高分辨熔解曲线法%疾病遗传易感性
Janus激酶類%紅細胞增多癥%真性%血小闆增多%齣血性%聚閤酶鏈反應%高分辨鎔解麯線法%疾病遺傳易感性
Janus격매류%홍세포증다증%진성%혈소판증다%출혈성%취합매련반응%고분변용해곡선법%질병유전역감성
JAK2 kinases%Polycythemia vera%Thrombocythemia,hemorrhagic%Polymerase chain reaction%High-resolution DNA melting analysis%Genetic predisposition to disease
目的 研究中国汉族人群中JAK2 46/1单倍型的tSNP rs12343867基因型与PV和ET患病易感性以及与JAK2 V617F突变的关系.方法 收集125例PV患者和87例ET患者及213名健康人全血DNA,用PCR结合高分辨熔解曲线法检测JAK2 rs12343867位点的基因型,并用简单随机抽样法从425份经熔解曲线法分析的标本中选取20份标本进行基因测序验证,x2分析PV和ET患者JAK2 46/1单倍型与MPNs患病风险的关系.结果 125例PV患者中C等位基因占62.8%,T等位基因占37.2%;87例ET患者C等位基因占45.4%,T等位基因占54.6%.20例随机选取的标本经基因测序法验证与高分辨熔解曲线法分析结果一致.JAK2 rs12343867 3种基因型分布差异有统计学意义(x2=78.69,P＜0.01).CC和CT基因型携带者均较TT型携带者发生MPNs的风险显著增加[比值比(OR)分别为18.56、3.60,95%可信限(CI)分别为8.70～39.58、2.28～5.69,P均＜0.01).PV组的等位基因频率在V617F阳性与阴性组之间的分布差异无统计学意义(x2=2.47,P=0.12);而在ET组中V617F阳性患者的等位基因C的检出率与V617F阴性组之间的分布差异有统计学意义(x2=7.75,P＜0.01).结论 JAK2 46/1单倍型是中国汉族PV和ET患者的易感基因.在ET患者中,个体携带的JAK2 46/1单倍型与后天获得JAK2 V617F突变相关.
目的 研究中國漢族人群中JAK2 46/1單倍型的tSNP rs12343867基因型與PV和ET患病易感性以及與JAK2 V617F突變的關繫.方法 收集125例PV患者和87例ET患者及213名健康人全血DNA,用PCR結閤高分辨鎔解麯線法檢測JAK2 rs12343867位點的基因型,併用簡單隨機抽樣法從425份經鎔解麯線法分析的標本中選取20份標本進行基因測序驗證,x2分析PV和ET患者JAK2 46/1單倍型與MPNs患病風險的關繫.結果 125例PV患者中C等位基因佔62.8%,T等位基因佔37.2%;87例ET患者C等位基因佔45.4%,T等位基因佔54.6%.20例隨機選取的標本經基因測序法驗證與高分辨鎔解麯線法分析結果一緻.JAK2 rs12343867 3種基因型分佈差異有統計學意義(x2=78.69,P＜0.01).CC和CT基因型攜帶者均較TT型攜帶者髮生MPNs的風險顯著增加[比值比(OR)分彆為18.56、3.60,95%可信限(CI)分彆為8.70～39.58、2.28～5.69,P均＜0.01).PV組的等位基因頻率在V617F暘性與陰性組之間的分佈差異無統計學意義(x2=2.47,P=0.12);而在ET組中V617F暘性患者的等位基因C的檢齣率與V617F陰性組之間的分佈差異有統計學意義(x2=7.75,P＜0.01).結論 JAK2 46/1單倍型是中國漢族PV和ET患者的易感基因.在ET患者中,箇體攜帶的JAK2 46/1單倍型與後天穫得JAK2 V617F突變相關.
목적 연구중국한족인군중JAK2 46/1단배형적tSNP rs12343867기인형여PV화ET환병역감성이급여JAK2 V617F돌변적관계.방법 수집125례PV환자화87례ET환자급213명건강인전혈DNA,용PCR결합고분변용해곡선법검측JAK2 rs12343867위점적기인형,병용간단수궤추양법종425빈경용해곡선법분석적표본중선취20빈표본진행기인측서험증,x2분석PV화ET환자JAK2 46/1단배형여MPNs환병풍험적관계.결과 125례PV환자중C등위기인점62.8%,T등위기인점37.2%;87례ET환자C등위기인점45.4%,T등위기인점54.6%.20례수궤선취적표본경기인측서법험증여고분변용해곡선법분석결과일치.JAK2 rs12343867 3충기인형분포차이유통계학의의(x2=78.69,P＜0.01).CC화CT기인형휴대자균교TT형휴대자발생MPNs적풍험현저증가[비치비(OR)분별위18.56、3.60,95%가신한(CI)분별위8.70～39.58、2.28～5.69,P균＜0.01).PV조적등위기인빈솔재V617F양성여음성조지간적분포차이무통계학의의(x2=2.47,P=0.12);이재ET조중V617F양성환자적등위기인C적검출솔여V617F음성조지간적분포차이유통계학의의(x2=7.75,P＜0.01).결론 JAK2 46/1단배형시중국한족PV화ET환자적역감기인.재ET환자중,개체휴대적JAK2 46/1단배형여후천획득JAK2 V617F돌변상관.
Objective To investigate the frequency of JAK2 46/1 haplotype,tagged by the C-allele of SNP rs 12343867(C/T) in Chinese Han patients with PV and ET,and study the relationship between the JAK2 V617F mutation.Methods The whole blood was collected from 125 PV patients,87 ET patients and 213 healthy people.The JAK2 46/1-linked tagged SNP was screened and genotyped with high-resolution DNA melting analysis.20 random selection copies was certificated by DNA sequencing.The frequencies of genotypes and alleles at tSNP was compared between the case and healthy groups by the chi-square test.Results The C-allele frequency of 125 PV patients was 62.8% and T-allele was 37.2%.Also C-allele frequency of 87 ET patients was 45.4% and T-allele was 54.6%.The random selection copies was verified by DNA sequencing.The results showed that the distribution of JAK2 46/1 tSNP genotypes were significantly different(x2 =78.69,P＜0.01).CC and CT had a higher risk for MPNs compared to TT homozygotes(CC vs TT OR = 18.56,95 % CI = 8.70-39.58; CT vs TT OR = 3.60,95 % CI = 2.28-5.69,all of P＜ 0.01).SNP rs 12343867 was genotyped in 212 patients with concomitant analysis of V617F allele burden.Cenotype distributions did not show significant difference compared with JAK2V617F in PV patients(x2 = 2.47,P =0.12).But in ET patients,compared with V617F-negative,the frequency of C-allele showed difference (x2 =7.75,P＜0.01).Conclusions The incidence of the JAK2 46/1-linked C allele is significantly increased the disease risk of PV and ET.Results indicate that JAK2 46/1 haplotype is associated with an increased risk of acquiring a specific somatic mutation.
