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At polymorphic gene locus, the variance components of quantitative trait was described as follows:VA=2βp and VG=p′Xp-G2 in which p=column vector of polymorphic allele frequencies,β=row vector of2,X=[a2ij]i×i matrix,aij=genotype value,and G=population mean.

数量性状相对多态座位的加性方差和遗传方差分别为VA=2βp和VG=p′Xp-G2,其中p′和p分别表示多态等位基因频率的行向量和列向量,X表示以基因型值平方为元素的矩阵,β表示以基因均效平方为元素的行向量,G为群体均数。

Lactoglobulin showed polymorphism in Maiwa yak and Jiulong yak, A, B and E alleles were detected, with E being the dominant allele.

麦洼牦牛和九龙牦牛β-LG存在多态性,存在A、B、E三个等位基因,其中E等位基因占绝对优势。

In this paper, population genetic variability and genetic structure of five populations of an important cultivation species, mirror carp ( Cyprinus carpio L.) were analyzed using 30 microsatellite loci. The observed and expected heterozygosity values, polymorphic information content and number of effective alleles ( A e were all determined.

采用30个微卫星分子标记,对5个镜鲤群体的观测杂合度、期望杂合度、多态信息含量和有效等位基因数等进行了遗传检测,根据基因频率计算遗传相似系数和Nei氏标准遗传距离,以 c 2检验估计Hardy-Weinberg平衡,以近交系数和基因流分析群体的遗传分化。

The results revealed that nine of the fourteen Y-specific markers cannot be used for investigating the swamp buffalo Y chromosome genetic diversity because of the reasons specified below: three microsatellites markers (INRA008, UMN0103 and UMN0504) were single allele and monomorphism, three (UMN1113, UMN0304 and BC1.2) indicated three alleles respectively but mornomorphism, and the other three (UMN0920, UMN0307 and UMN3008) showed irregular ladder-like bands. Only the remaining five microsatellites (INRA124, INRA189, BM861, PBR1F1 and UMN2001) indicated polymorphisms, and thus can be applied to study the swamp buffalo Y chromosome genetic diversity.

结果表明,3个标记(INRA008,UMN0103和UMN0504)只有1个等位基因,表现为单态;3个标记(UMN1113,UMN0304和BC1.2)均为3个等位基因,但呈单态;3个标记(UMN0920,UMN0307和UMN3008)呈现无规律的梯状条带,所以这9个标记都不适用于水牛的Y染色体遗传多样性研究;只有5个标记(INRA124,INRA189,BM861,PBR1F1和UMN2001)具有多态性,表明适用于水牛的Y染色体遗传多样性研究。

Among 13 DRB1 alleles detected in Drung ethnic, a unique feature of its allele distribution is having predominant homozygotes (64.9%) in all studied populations. In Drung HLA-DRB1〓14011 is highly prevalently presented with the allelic frequency of 70.07%.

独龙族中检出13种等位基因,其遗传学显著特点是纯合子类型检出较多,纯合子36个,占被检样品的64.9%,DRB1*14011分布占绝对优势,占被检出等位基因的70.07%。

Methods 202 kinless subjects of the Chinese Han were investigated in this study, including 82 normal controls, and 120 cases diagnosed as CHD. The PPARδ+294T/C gene polymorphism was determined by polymerase chain reaction and restriction fragment length polymorphisms. The frequencies of PPARδ+294T/C genotypes and the "C"allele frequency were analyzed, to evaluate the risk for the CHD among variant genotypes.

运用聚合酶链式反应及限制酶片段长度多态性技术分析无血缘关系汉族人群[包括82例正常对照者,120 例冠心病患者]的PPARδ+294T/C基因多态性,分析基因型频率、等位基因频率,并对不同基因型患者冠心病的危险性进行评价。

To investigate distribution of gene mutations in LPL exon 9 in Chinese population and to study the possible effects of the mutation on plasma lipids, variants were screened by PCR-SSCP and DNA sequencing. Ser~(447)→stop polymorphism was identified by PCR-RFLP . the plasma lipids in stop447 carrier group and stop447 noncarrier group were compared and analysis.

为探讨中国人群LPL基因外显子9常见突变的种类、频率以及其可能产生的影响,我们利用聚合酶链反应-单链构象多态性分析和DNA测序技术及PCR-RFLP技术检测出我国人群的LPL外显子9基因突变、基因型和等位基因频率,确定了中国人群Ser~(447)→stop这一多态性位点。

All the LOH on 〓 and 〓 was observed in invasive ductal carcino- ma, carcinoma simplex, medulary carcinoma and scirrhous carcino- ma, no deletions at these sites were observed in any invasive lobular carcinoma and others. These results imply an etiological difference.P53 gene is a hot point gene in the occurrence and development of breast, cancer. PCR-SSCP analysis was performed to detect P53 gene point mutation in the region between exon 5 and 8, 5 of 12 (41. 6%) stage I breast cancer patients contain mutation of P53, 3 of 5 patients were accompanied by 〓 deletion. These results suggested that point mutation and allelic loss of P53 gene are two vi- tal genetic events in earlier stage of breast tumorigenesis.

我们还发现,〓和〓位点LOH均分布在乳腺浸润性导管癌、单纯癌、髓样癌及硬癌中,在浸润性小叶癌和某些特殊类型乳腺癌中全部为LOH阴性,上述位点LOH可能与某些组织学类型乳腺癌的发生有关。P53基因是乳腺癌形成过程中的一个热点基因,本研究对12例Ⅰ期乳腺癌组织标本中P53基因热点区域第5、6、7、8外显子点突变进行了测定,发现41.6%(5/12)的病人有P53基因一个或多个点突变,其中3例同时伴有〓位点LOH,表明P53基因点突变和等位基因缺失是发生在乳腺癌形成早期的一个重要遗传学事件。

Methods One hundred thirty PCOS women and one hundred seventy five normal women as controls were enrolled in this study. The genotypes were screened by polymerase chain reaction-On/off switch and the product was isolated by electrophoresis on a 2.5% agarose gel containing ethidium bromide and visualized using an ultraviolet transilluminator.

应用On/off Switch-聚合酶链反应及琼脂糖凝胶电泳分离技术分析130例多囊卵巢综合征患者及175例对照组妇女TNF-α基因rs3179060C/A多态,比较rs3179060C/A两组等位基因及基因型与PCOS及其高雄激素之间的关系。

Methods The method of PCR- RFLP was conducted to examine the genotype of 3 cPLA2 genes ( PLA2G4A, PLA2G4B and PLA2G4C genes) in 263 subjects, including 121 cases of T2DM and 142 controls. The conditional test was used to test the combined effect of distinct loci on the T2DM by conditioning on allele or by conditioning on genotype with UNPHASED analysis platform. Results The genotypic frequencies of the 3 genes did not deviate from Hardy-weinberg equilibrium in both case and control groups.

采用聚合酶链反应-限制性内切酶片段长度多态性方法检测T2DM患者(病例组121例)和健康对照(对照组142例)3个cPLA2基因(PLA2G4A、PLA2G4B和PLA2G4C基因)的基因型;借助UNPHASED分析平台,利用等位基因条件分析和基因型条件分析方法分析基因的联合作用与T2DM的遗传相关性。

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