吉林市汉族妇女GSTM1基因和CYP1A1基因Exon7位点多态性与 子宫内膜异位症易感性的研究

目的:探讨在吉林地区汉族妇女中细胞色素P450(CYP1A1)基因Exon7位点多态性即Ile-Val位点的多态性及GSTM1基因多态性和子宫内膜异位症易感性的相关关系。方法:以病例对照的研究方法,采用PCR技术检测216例子宫内膜异位症和216例对照人群的CYP1A1基因Ile-Val位点及GSTM1基因多态性的表达。结果:吉林地区汉族人群中GSTM1空白基因型分布频率0.463,内异症人群中空白基因型分布频率0.667,两组差异有统计学意义(P<0.05),空白基因型患内异症的危险是功能基因型的1.896倍;Ile-Val三种多态基因型在内异症组和对照组分布差异有统计学意义(P<0.05),Ile/Val、Val/Val基因型患内异症的危险分别是Ile/Ile基因型的1.901倍和3.056倍;CYP1A1 Ile/Val联合GSTM1空白基因型个体的OR值为3.409(95%C I 1.897~6.125,P<0.01),而CYP1A1Val/Val联合GSTM1空白基因型个体的OR值增高至7.143(95%C I 2.584~19.742,P<0.01)。结论:CYP1A1 Exon7的Ile/Val、Val/Val基因型及GSTM1空白基因型与内异症的易感性有关,二者联合效应具有协同作用,可望作为内异症易感人群筛选的重要指标。     

CYP1A1基因多态性与肺癌个体易感性研究

[目的 ]探讨CYP1A1Msp1和Ile/Val多态性单独或联合作用 ,对肺癌易感性的影响。 [方法 ]以病例一对照研究的方法 ,采用PCR扩增限制酶切法 (PCR -RFLP)和等位基因特异性扩增 (Allele SpecificAmplification ,ASA)检测 92例肺癌病人 (病例组 )和 98例非肿瘤病人 (对照组 )CYP1A1基因Msp1和Ile/Val基因型。 [结果 ]Msp1多态性位点 :具有B和C基因型者患肺癌的危险性是A基因型者的 1 85倍 (χ2 =4 3 6,P <0 0 5 ,OR =1 85 ,95 %CI 1 0 4～ 3 3 0 )。Ile/Val多态性位点 :Val/Val基因型者患肺癌的危险性是Ile/Ile基因型者的 3 3倍 (χ2 =4 12 ,P <0 0 5 ,OR =3 3 ,95 %CI 1 0 2～10 72 )。Ile/Val基因型联合B基因型、C基因型或Val/Val基因型联合C基因型与Ile/Ile基因型联合A基因型相比 ,患肺癌的危险性增加 ,其相对危险度分别为 3 0 9(χ2 =5 81,P <0 0 5 ,95 %CI 1 7～ 9 96) ;4 74(χ2 =4 74,P <0 0 5 ,95 %CI1 11～ 2 0 9) ;5 5 (χ2 =4 42 ,P <0 0 5 ,95 %CI 1 2 7～ 2 3 6)。 [结论 ]CYP1A1基因的B、C和Val/Val基因型可能是肺癌的易感基因型 ,两种易感基因型同时存在 ,更增加对肺癌的易感性     

广西壮族人群CYP1B1基因Leu 432 Va1多态性分析

目的研究CYP1B1第432密码子在广西壮族人群中遗传特征,为进一步研究CYP1B1基因多态性与疾病的发生易感性奠定基础。方法采用人工修饰双等位基因特异性引物扩增法(diASA-AMP)技术对288名广西壮族正常成人进行CYP1B1 Leu 432 Va1基因分型,探讨性别间差异及与国内外其他人群分布频率差异。结果广西壮族女性和男性人群CYP1B1 Leu 432 Va1均以C等位基因为主,分别为89.1%和91.4%;CC野生纯合子型、CG杂合子型和GG突变纯合型在女性人群中分别为78.3%、21.3%和0,男性人群则为83.6%、15.6%和0.8%;统计分析表明,广西壮族CYP1B1 Leu 432 Va1等位基因和基因型分布频率无性别差异,与朝鲜人群相应位点基因型分布频率无差异,但与国内江苏汉族、上海和四川女性相比具有统计学差异(P<0.05),与日本、印度、波兰、尼日利亚、美国白人和美国黑人等人群相应位点基因型分布频率有明显差异(P<0.01)。结论广西壮族人群CYP1B1基因Leu 432 Va1呈多态性分布,基因型分布频率无性别差异,存在种族差异。     

人工修饰双等位基因特异性引物扩增法检测CYP1B1多态性与肺癌易感性的关系

[目的 ]应用一种新的快速检测单核苷酸多态性 (SNP)方法———人工修饰双等位基因特异性引物扩增 (di ASA AMP)法研究CYP1B1基因Leu43 2Val位点多态性与江苏汉族人群肺癌易感性的关系。 [方法 ]采用配对病例 对照研究 ,收集江苏汉族人群原发性肺癌患者 2 2 7例为病例组 ,同时按 1∶1配对选择非肿瘤、非呼吸道疾病患者 2 2 7例为对照组。应用diASA AMP方法检测了病例组与对照组CYP1B1基因Leu43 2Val位点多态性 ,分析Leu43 2Val位点突变与肺癌易感性之间的关系。并应用测序法验证diASA AMP法的特异性。 [结果 ]CYP1B1基因Leu43 2Val位点突变C和G的基因频率在对照组和病例组的分布差异无显著性 ( χ2 =0 .2 0 1,P >0 .0 5 ) ,单纯CYP1B1基因Leu43 2Val位点突变与肺癌危险性也不存在明显的相关关系 (OR =1.0 85 ,95 %CI =0 .73 0～ 1.615 ) ,但该位点突变与吸烟可能有一定协同作用 ,携带G等位基因的基因型可增加吸烟者患肺癌的危险性 (OR =2 .0 5 7,95 %CI =1.162～ 3 .64 2 )。对照组的CYP1B1C和G等位基因频率与现有的中国汉族人群资料结果相近 ,测序结果与diASA AMP结果相符。 [结论 ]CYP1B1Leu43 2Val多态性可能是江苏汉族人群吸烟者肺癌发生的易感因素。diASA AMP法可用于单核苷酸多态性的快速测定     

CYP1B1基因多态性与乳腺癌关系的病例-对照研究

目的研究细胞色素P4501B1突变基因型与乳腺癌患病风险的关系。方法运用病例-对照研究方法,从2003年12月起至2004年9月止,序贯收集组织病理学确诊乳腺癌女性病例共95名,社区来源健康女性对照140名。采用问卷调查和病例查询方法收集乳腺癌相关危险因素信息及患病资料;用等位基因特异性聚合酶链反应(AS-PCR)法检测CYP1B1第3外显子432密码子基因型(3*型突变);用logistic回归模型分析突变基因型与乳腺癌患病风险的相对危险度(OR)。结果按绝经状态分层分析,绝经前和绝经后人群病例和对照携带突变基因率差异也无显著性。在控制了年龄、哺乳史和未足月产史后,总病例-对照及按绝经状态分层分析均未观察到CYP1B1的3*型突变杂合型(Val/Leu)及突变纯合基因型(Leu/Leu)与乳腺癌之间的关联无统计学意义(OR≈1,P>0.05)。结论CYP1B1的3*型突变基因型并不能增加一般人群乳腺癌的患病风险。     

CYP1A1基因多态性与吉林籍汉族女性子宫内膜异位症易感性的研究

目的:探讨在吉林市汉族妇女中CYP1A1基因Exon7位点即Ile-Val位点的多态性与子宫内膜异位症易感性的相关关系。方法:以病例对照的研究方法,采用PCR技术检测在216例子宫内膜异位症患者和216例对照人群中CYP1A1基因Ile-Val位点多态性的表达。结果:Ile-Val 3种多态基因型在病例组和对照组分布有统计学意义(P<0.05),Ile/Val、Val/Val基因型在病例组的分布频率明显高于对照组(P<0.05);Ile/Val、Val/Val基因型患子宫内膜异位症的危险分别是Ile/Ile基因型的1.901倍和3.056倍。结论:CYP1A1Exon7的Ile/Val、Val/Val基因型与子宫内膜异位症的易感性有关,可望作为子宫内膜异位症易感人群筛选的重要指标。     

CYP1A1和CYP1B1基因多态性与RPL易感性

目的 探讨CYP1A1、CYP1B1基因多态性与复发性流产(RPL)遗传易感性关系,为预防和治疗该病提供新靶点.方法 本研究采用等位基因特异性PCR (As-PCR)和聚合酶链反应-限制性片断长度多态性(PCRRFLP)方法,针对CYP1A1基因MspI酶切位点和CYP1B1 L432V多态位点,检测81例患有原因不明RPL病例组和98名有生育史健康女性对照组之间差异.结果 RPL组和对照组CYP1A1 MspI位点3种基因型m1/m1、m1/m2、m2/m2分布频率差异无统计学意义(x2=0.335,P＞0.05);CYP1B1 L432V多态位点3种基因型C/C、C/G、G/G在病例组和对照组分布差异有统计学意义(x2=7.467,P＜0.05);2组间C、G等位基因分布差异有统计学意义(x2=9.129,P=0.003);G/G、C/G基因型与C/C基因型比较,RPL危险度分别提高2.620、1.954倍;等位基因G使RPL危险性增加2.038倍.结论 CYP1B1 L432V突变基因型增加RPL发病风险,尚不能认为CYP1A1基因MspI位点多态性与RPL易感性有关.     

细胞色素P4501A1基因多态性与食管癌易感性关系的Meta分析

目的 探讨细胞色素P4501A1(CYP1A1)MspI和Ile/Val位点基因多态性与食管癌发生的关系.方法 采用Meta分析方法,对国内外1997-2008年采用病例对照方法研究CYP1A1MspI和Ile/Val基因多态性与食管癌发生关系的16篇(MspI 8篇,Ile/Val 14篇)文献,采用显性模型(即突变基因型与野生型比较)进行综合定量分析,然后按病理分型(鳞癌/腺癌)分亚组进行分析.结果 综合分析CYP1A1 MspI突变基因型(TC+CC)与食管癌发生无统计学关联(OR=1.17,95%CI:0.82～1.66),亚组分析亦未发现CYP1A1 MspI突变基因型与食管鳞癌(OR=1.17,95%CI:0.82～1.69)和食管腺癌(OR=1.39,95%CI:0.67～2.09)的统计学关联;携带CYP1A1突变基因型(Ile/Val+Val/Val)的个体发生食管癌的危险性是野生型的1.39倍(OR=1.39,95%CI:1.07～1.80);亚组分析显示突变基因型与食管鳞癌发生的易感性相关但与食管腺癌无关联,OR值分别为1.43(95%CI:1.07～1.91)和1.20(95%CI:0.62～2.30).结论 CYP1A1 Ile/Val位点突变基因型可增加食管鳞癌发生的危险性,CYP1A1 MspI位点基因多态性与食管癌无关联.     

GSTT1及CYP1A1基因多态性与肺癌易感性关系

目的 探讨细胞色素P4501A1(CYP1A1)和谷胱甘肽硫转移酶T1(GSTT1)基因多态性与肺癌易感性的关系.方法 用等位特异性PCR(AS-PCR)及多重PCR技术分析106例肺癌患者和250名健康人的CYP1A1、GSTT1基因多态性、基因型分布频率和交互作用.结果 携带CYP1A1(Val/Val)/GSTT1(-)基因型的人患肺癌的风险明显增加(P=0.025);吸烟与肺癌易感性有关(P=0.037),吸烟者患肺癌的风险明显增加(OR=1.628.95%CI=1.028～2.577);携带CYP1A1(Val/Val)基因的吸烟者较携带CYP1A1(Ile/Ile)基因型的不吸烟者易患肺癌(P=0.033);携带GSTT1(-)的吸烟者患肺癌的风险明显增加(P=0.045).结论 CYP1A1突变型和GSTT1(-)基因型是肺癌的可疑易患因素,二者对肺癌的发生有协同作用,但单独携带CYP1A1突变型或GSTT1(-)基因型肺癌易感性差异无统计学意义,吸烟与肺癌易感性有关;CYP1A1突变型、GSTT1(-)基因型与吸烟在肺癌的发生上有相互促进作用.     

广西部分壮族妇女CYP1B1基因Ala119Ser多态性与乳腺癌易感性研究

目的探讨CYP1B1基因Ala119Ser与乳腺癌易感性的关联性。方法采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术对88例广西壮族女性乳腺癌患者和106例健康对照者进行CYP1B1 Ala119Ser基因分型,并分析其与乳腺癌患病的关系。结果病例组CYP1B1 Ala119Ser T等位基因分布频率(30.7%)明显高于对照组(19.3%),差异有统计学意义(P<0.05)。病例组3种基因型(GG、GT、TT)分布频率与对照组相比,差异有统计学意义(P<0.05);病例组CYP1B1 Ala119Ser突变型纯合子(TT)的分布频率为10.2%,明显高于对照组(2.8%);与野生型纯合子(GG)相比,病例组TT基因型能增加乳腺癌患病风险(OR=4.74,95%CI为1.22~18.51)。结论 CYP1B1 Ala119Ser突变可能增加广西壮族妇女乳腺癌易感性。     

CYP19和CYP1B1基因多态性与妊娠期肝内胆汁淤积症易感性的研究

目的:探讨P450酶系的CYP19和CYP1B1基因多态性与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法:应用聚合酶链反应-限制性片段多态性技术(PCR-RFLP)和等位基因特异性PCR技术(AS-PCR)对100例ICP患者和100例正常对照孕妇CYP19基因第3外显子Rsal酶切多态和CYP1B1基因外显子3密码子432(C-G)多态性进行分析。结果:①对照组CYP19的基因型AA、AG、GG频率分别为30.0%、50.0%、20.0%,ICP组分别为38.0%、45.0%、17.0%,两组比较差异无统计学意义(P>0.05);对照组等位基因A、G频率分别为55.0%、45.0%,ICP组分别为60.5%、39.5%,两组比较差异也无统计学意义(P>0.05)。②对照组CYP1B1的基因型CC、CG频率分别为80.0%、20.0%,ICP组分别为70.0%、30.0%,两组均无突变纯合子(GG),两组比较差异无统计学意义(P>0.05);对照组等位基因C、G频率分别为90%、10%,ICP组分别为85%、15%,两组比较差异也无统计学意义(P>0.0S)。结论:CYP19外显子3基因多态性和CYP1B1外显子3密码子432基因多态性与ICP发病无关。     

Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review

The association between the cytochrome P-450 1B1 (CYP1B1) Val432Leu polymorphism and breast cancer was assessed through a meta-analysis of all published case-control studies and a pooled analysis of both published and unpublished case-control studies from the Genetic Susceptibility to Environmental Carcinogens (GSEC) database ( www.upci.upmc.edu/research/ccps/ccontrol/g_intro.html ). GSEC is a collaborative project that gathers information on studies of metabolic gene polymorphisms and cancer. Thirteen articles were included in the meta-analysis (14,331 subjects; 7,514 cases, 6,817 controls); nine data sets were included in the pooled analysis (6,842 subjects; 3,391 cases, 3,451 controls). A summary meta- or pooled estimate of the association between the CYP1B1 Val432Leu polymorphism and breast cancer could not be calculated because of statistically significant heterogeneity in the point estimates among studies. No association between the CYP1B1 Val432Leu polymorphism and breast cancer was observed in Asians (for Val/Val and Val/Leu combined, odds ratio (OR) = 1.0, 95% confidence interval (CI): 0.8, 1.2). An inverse association was observed in populations of mixed/African origin (OR = 0.8, 95% CI: 0.7, 0.9). The pooled analysis suggested a possible association in Caucasians (for Val/Val and Val/Leu combined, OR = 1.5, 95% CI: 1.1, 2.1), with effect modification across age categories. The observed effect of age on the association in Caucasians indicates that further studies are needed on the role of CYP1B1 Val432Leu in estrogen metabolism according to age, ethnicity, and menopausal status.     

Adipose tissue PCB levels and CYP1B1 and COMT genotypes in relation to breast cancer risk in postmenopausal Danish women

Exposure to PCBs may be an etiologic factor for breast cancer. The cytochrome P450 1B1 (CYP1B1) and catechol-O-methyltransferase (COMT) enzymes are involved in estrogen metabolism and PCB metabolism, both of which may relate to breast cancer susceptibility. Polymorphisms in genes regulating these enzymes control efficiency. Our objective was to assess whether CYP1B1 and COMT gene polymorphisms modulate the effect of PCBs in breast cancer risk, among postmenopausal Danish women. Neither CYP1B1 Leu432Val polymorphisms nor adipose tissue PCBs were independently associated with breast cancer risk. When assessing the independent effect of the COMT Val158Met polymorphism, we observed reduced risk for breast cancer amongst hormone replacement therapy using women who were homozygous carriers of the variant allele compared with those carrying the wild-type variant (RR?=?0.41; 95% CI: 0.29–0.89). We found no statistically significant interactions between any of the PCB groups and CYP1B1 or COMT polymorphisms on the risk of breast cancer.     

CYP 1B1基因A119S多态性与妊娠期肝内胆汁淤积症风险关系的研究

目的:探讨CYP1B1基因A119S多态性与妊娠期肝内胆汁淤积症(ICP)发生危险性的关系。方法:用等位基因特异性PCR(AS-PCR)法,对73例妊娠期肝内胆汁淤积症患者和90例正常女性的CYP1B1 A119S多态位点进行检测分析,确定出多态性的3种基因型,即野生型G/G、杂合型G/T、突变型T/T。结果:CYP1B1基因A119S多态性G/G、G/T、T/T 3种基因型分布频率,ICP组分别为3.8%、39.7%和16.5%,对照组分别为64.4%、26.7%和8.9%;ICP组G、T等位基因频率为63.7%,36.3%,对照组为77.8%,22.2%。CYP1B1 A119S多态性基因型及等位基因型在两组间分布频率的差别有统计学意义(P<0.05)。基因型T/T与G/G比较、G/T与G/G比较,OR值分别为2.719(1.007～7.341)倍和2.190(1.096～4.375)倍;等位基因T使ICP危险性增加了1.995(1.226～3.246)倍。结论:CYP1B1 A119S多态位点3种基因型的分布与ICP发病风险有一定关联,突变基因型增加了ICP的发病风险。     

有机氯农药残留及GSTM1基因与女性乳腺癌关系

目的研究血清中有机氯农药残留及谷胱甘肽转移酶M1(GSTM1)基因多态性与女性乳腺癌患病风险的关系。方法运用1∶1配比病例对照研究方法,自2006年9月-2007年10月收集女性乳腺癌病例及对照共70对,采用气相色谱法检测血清中有机氯农药残留,用聚合酶链反应(PCR)检测GSTM1基因多态性。结果2型交互作用模型分析结果显示,单独暴露于滴滴涕(DDT)高残留的OR值为3.859,95%CI=1.195～12.466,单独GSTM1缺失基因型的OR值为1.343,95%CI=0.355～5.075,两因素共同作用的OR值为5.557,95%CI=1.633～18.903,r值为1.237,提示GSTM1缺失基因型对血清DDT残留效应有放大作用;单独暴露于六六六(HCH)高残留的OR值为2.731,95%CI=0.841～8.869,单独GSTM1缺失基因型的OR值为1.483,95%CI=0.478～4.603,两因素共同作用的OR值为3.866,95%CI=1.178～12.682,r值为1.379,提示GSTM1缺失基因型对血清HCH残留效应有放大作用。结论GSTM1基因多态性与环境危险因素DDT、HCH暴露在乳腺癌发生中存在一定的交互作用。     

Cyp1B1 mRNA expression in correlation to cotinine levels with respect to the Cyp1B1 L432V gene polymorphism

Cytochrome P450 1B1 (CYP1B1) is involved in the activation of a broad spectrum of procarcinogens. An association of the Cyp1B1 Leu432Val polymorphism with cancer as well as an impact on the enzyme activity has been described. To study gene-environmental interactions we investigated the quantitative Cyp1B1 mRNA expression in smokers (N = 102) and non-smokers (N = 192) with regards to the Cyp1B1 L432V gene polymorphism. Tobacco smoke exposure was assessed by serum cotinine levels. Genotypes were analysed by melting curve analysis and quantification of Cyp1B1 mRNA by real-time PCR. In comparing Cyp1B1 expression, significant differences between the two homozygote genotypes *1/*1 and *3/*3 (0.105 ± 0.019; n = 26 vs. 0.051 ± 0.017; n = 14; P = 0.039) and between the heterozygote genotype *1/*3 and *3/*3 (0.121 ± 0.029; n = 55 vs. 0.051 ± 0.017; n = 14; P = 0.039) of smokers were revealed. According to the serum cotinine levels, three subgroups (low; medium; high) were build. The group “high” (0.248 ± 0.089; n = 32) showed proportionally high Cyp1B1 mRNA expression compared to “medium” (0.101 ± 0.024; n = 33), “low” (0.086 ± 0.015; n = 32) and non-smokers (0.084 ± 0.007; n = 176). This result was reflected in the homozygote *1/*1 and the heterozygote *1/*3 genotypes. In contrast the homozygote *3/*3 genotype was missing the high Cyp1B1 mRNA expression in the cotinine subgroup “high”. Our results suggest that genotypes carrying the C-allele (*1/*1 and *1/*3) at Cyp1B1 Leu432Val polymorphism show a higher response to environmental factors, such as tobacco smoke than homozygote *3/*3 genotypes.     

GSTT1基因、GSTM1基因多态性与乳腺癌易感性的病例-对照研究

目的探讨女性乳腺癌人群中,雌激素代谢酶GSTT1基因、GSTM1基因多态性与乳腺癌易感性的关系。方法采用聚合酶链反应(PCR)对天津市105例正常对照者和100例乳腺癌患者的GSTT1基因、GSTM1基因多态性进行检测,Logistic回归分析评估单个、联合基因以及雌激素暴露相关因素对罹患乳腺癌的危险度。结果GSTT1基因缺失型在两组间分布频率的差别有统计学意义(χ2=13.766,P=0.000),GSTM1基因在两组间分布频率的差别有统计学意义(χ2=13.135,P=0.000);联合基因型分析显示,随着GSTT1或GSTM1基因型缺失情况的出现,个体罹患乳腺癌的危险性增加(趋势性检验,χ2=27.011,P=0.000);GSTM1基因和GSTT1基因同时缺失的人群OR(95%CI)为12.338(3.621～22.042);多因素非条件Logistic回归分析结果显示:GSTT1基因和GSTM1基因缺失与乳腺癌的发生相关。结论雌激素代谢酶相关基因多态性与乳腺癌发生相关。     

Detection of CYP1A1 gene polymorphism using designed RFLP and distributions of CYP1A1 genotypes in Japanese

Isoleucine (Ile)-valine (Val) polymorphism, which is caused by a point mutation from A to G in exon 7, is reported to be associated with an elevated risk of lung cancer among Japanese. Because CYP1A1 catalyzes bioactivation of environmental procarcinogens, such as benzo[a]pyrene, it is very important to study the clinical meaning of Ile-Val polymorphism using an epidemiological study. In an epidemiological study, easy, economical, rapid and reliable identification of the CYP1A1 genotype is necessary. The present study shows that the new method, designed restriction fragment length polymorphism (designed RFLP), can detect Ile-Val polymorphism of CYP1A1 The Ile-Val polymorphism detected using this new method was consistent with that found by the allele-specific PCR amplifications (ASA) method in six cases tested. This new method detected Ile-Va1 polymorphism of CYP1A1 using 240 healthy Japanese who lived in the northern Kyusyu region. The frequency of the genotypes was as follows: Ile/Ile, 159 (66.2%); Ile/Val, 65 (27.1%); Val/Val, 16 (6.7%). The frequency of the Ile gene was 0.798 and that of the Val gene, 0.202. There was no difference in Ile-Val polymorphism based on sex or age. Racial differences influenced the distribution of this polymorphism, but Japanese regional differences did not. Since this new method, designed RFLP, is rapid, reliable and suitable for large-scale screening of polymorphisms, it may be used routinely to detect Ile-Val polymorphism of CYP1A1 Furthermore, it will help to evaluate the relationship between CYP1A1 polymorphism and individual sensitivity to xenobiotics that may affect the incidence of lung cancer.     

一种新的BRCA1等位基因

目的　对乳腺癌易感基因- 1(BRCA 1) m RNA进行全长序列分析。方法　采用逆转录PCR(RT-PCR)技术和c DNA测序,分析3名个体的BRCA1基因m RNA全长序列,3名个体中,2名为乳腺癌患者,另一名为健康献血者。结果　健康献血者的BRCA1基因m RNA序列与以往报道的正常m RNA序列(U 14 6 80 )完全一致;1名患者的BRCA 1m RNA序列在第11外显子发现5处碱基突变外:2 2 0 1C>T,2 4 30 T>C,2 731C>T,32 32 A>G和36 6 7A>G,在第13和第15外显子各有一处碱基变异:4 4 2 7T>C和4 95 6 A>G;另一名患者则在上述碱基变异位点均表现为正常BRCA1基因和突变等位基因的杂合性。结论　结果表明通过BRCA 1基因m RNA序列分析,发现一新的等位基因,该基因与正常BRCA1编码区序列存在7处碱基差异,新等位基因已由EMBL /Gen Bank/DDBJ收录,注册号为AY75 14 90。