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多等位基因

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Simple sequence repeats molecular markers are useful for a variety of applications in plant genetics and breeding because of their reproducibility, multiallelic nature, codominant inheritance, relative abundance and good genome coverage.

简单重复序列(simple sequence repeat, SSR)分子标记因其具有稳定性好、多等位基因、共显性遗传、数量丰富、基因组覆盖性好等优点,现已广泛应用于多种植物的遗传育种研究中。

Meanwhile, Tibetan sheep (breeded in Sanjiaocheng of Qinghai, Huangcheng and Gannan of Gansu ), Mincounty Blank Fur sheep and Texel and Poll Dorset were controlled. The results indicated that polymorphism was tested at the loci of Hb, Tf and Es, that erythrocyte protein 1 and 2 were monomorphism. There were a couple of allele and three genotypes at the loci of Hb and Es. There were 10 genotypes at the locus of Tf, which was determined by 5 alleles.

结果表明,青海细毛羊和甘肃高山细毛羊的血红蛋白、转铁蛋白和酯酶基因座上存在丰富的多态性,其中Hb和Es位点受一对等位基因控制,共构成3种基因型;Tf位点受5个等位基因控制,共构成10种基因型;而红细胞蛋白质-1(EP-1)和红细胞蛋白质-2(EP-2)基因座均呈显单态;青海细毛羊的AMY基因座具有AMY1、AMY2、AMY3三种同工酶,其中AMY2呈多态,有AMY2A和AMY2O两种表现型,而甘肃高山细毛羊的AMY呈显单态。

OL alleles were found out in eleven loci. 11, 9 and 7 kinds of OL alleles were found in PentaE, PentaD, and D7S820, respectively. Allele frequencies of 18.4, 19.4, 26 in PentaE, 6 in PentaD, 30.3 in D21S11 were more 1.0‰.

在Powerplex16 System中的15个基因座有11个基因座发现OL等位基因,以PentaE、PentaD和D7S820基因座中发现最多,分别有11、9和7个。D7S820的等位基因9.1、9.2、10.1;PentaE中的等位基因18.4,19.4,26;PentaD中的等位基因6;D21S11的等位基因30.3的频率均大于1‰。

Moreover, the actual allele frequency of most varieties deviates far from Hardy-Weinberg equilibrium. All PPB、na 、I、h、Gi and Fst have proved to be the references to elucidate that ISSR is a most powerful tool to analyze genetic diversity, compared with the RAPD marker and the allozyme marker is less strong ordinally. We could divided the 70 samples into A, B, C, D and E five groups using three methods according to genetic distance clustering. There is a bit displacement for few varieties in different clustering maps, but the most are similar to morphological analysis despite that there is still a great difference among cultivars in the same one group. The above results imply that the three methods have the different sensitivity and resolution in genetic distance analysis of close varieties. The Mantel test indicates that the results from the three kinds of markers have the significant correlation, which demonstrates that the number of the used three kinds of markers is enough to exactly detect the diversity of all 70 samples to ideal extent. And these methods can be used to evaluate the diversity of the whole group using the miscellaneous samples instead of the individual sample, of the Gerbera jamesonii are mainly from tissue culture plants. In conclusion, the above study results provide a reference for the application of three kinds of molecular markers to molecular marker-assisted breeding of flower. 2. The genetic diversity among the eight introduced cut-flower varieties of Ranunculus asiatica was analyzed by the ISSR markers. Based on the genetic clustering tree, all the colorful flower varieties are clustered into one group, and the white flower varieties into another group. Moreover, among the former group the yellow flower varieties are clustered into one sub-group, and the reddish flower varieties, such as rose color, pink, nacarat, are clusetered into another sub-group.

由三种分子标记的分析结果可以看出,等位基因平均值、观察杂合度、Fis值、Fit值皆较高,表明非洲菊等位基因较丰富,杂合基因偏多,且绝大部份品种的实际等位基因频率在品种内偏离了Hardy-Weinberg equilibrium;PP8、na、Ⅰ、h、Gi及Fst皆表明,ISSR检测遗传多样性的能力最强,其次是RAPD,等位酶最低;根据遗传距离进行聚类,三种方法都把70个品种分成A、B、C、D、E五个大组,每一组中除少数品种发生位移外,大部份品种分类结果相似,且与形态分析结果有相似性,但在每一组中,品种间的聚类差别较大,表明这三种方法在近距离品种间检测遗传变异时灵敏度及分辨力不同;Mantel检测表明,三种标记的分析结果有显著相关性,表明所用的三种分子方法的标记数量已经可以相对无偏地检测到70个品种间遗传变异;非洲菊为组培苗,三种标记的检测结果皆表明,混合样品可以作为个体样品的代表,对整个居群的遗传多样性进行评价;这些研究结果可为三种分子标记方法在花卉分子辅助育种中的进一步应用提供借鉴。

The experiment obtains clone pig HUMMLC2B gene (GenBank logs onto date: DQ533994), use PCR-RFLP technology, analysed HUMMLC2B gene the 1st embedded child medium Msp Ⅰ is enzymatic cut much condition (T613C) is in distributinging; analysed the much condition sex in 7 breed pig 5 many condition sex and 36 long white pigs, groups 104 pigs and grow to be mixed in vain 5, the result makes clear, the scale that waits for a gene and B to wait for a gene frequency except the A in long white pig in detected swinery is 1 ∶ 2 outside, of the others all take absolutely advantage for a gene such as B, and a gene such as A is pure close individual detect in long white pig only.

实验获得克隆猪HUMMLC2B基因(GenBank登录号:DQ533994),并采用PCR-RFLP技术,分析了HUMMLC2B基因第1内含子中的MspⅠ酶切多态(T613C)在7个品种猪中的多态性分布;分析了多态性和36头长白猪、5个群体104头猪以及长白和5个群体之和的140头猪胴体性状和肉质性状间的相关,结果表明,在检测的猪群中除长白猪中A等位基因和B等位基因频率的比例为1∶2外,其余的均为B等位基因占绝对优势,且A等位基因纯合个体只在长白猪中检测到。

This study investigated gene polymorphism of β_1-AR, CY2PD6, ACE and of BDKRB2 in the population of Hunan mid-region by PCR and PCR-RFLP method. The results showed that the frequencies of Ser49Ser and Arg389Arg genotype of β_1-AR gene were respectively 68.7% and 55.3%. And the allele frequencies of 49Ser and 49Gly were 83.9% and 16.1%, moreover 76.1% for 389Arg and 23.9% for 389Gly.

本研究应用PCR、PCR-RFLP方法首次对湖南中部地区403例原发性高血压患者的β_1-AR基因、CY2PD6基因、ACE和BDKRB2基因多态性的调查,结果显示:β_1-AR基因型Ser49Ser、Arg389Arg分别占68.7%、55.3%,49Ser和49Gly等位基因频率分别为83.9%、16.1%,389Arg和389Gly等位基因频率分别为76.1%、23.9%;CYP2D6等位基因频率由高到低依次为~*10、~*1、~*2、~*5,CYP2D6~*10~*10基因型频率最高,占47.4%;ACEI和D等位基因频率分别为55.8%、44.2%,基因型频率分别为Ⅱ型33.5%、ID型44.7%、DD型21.8%;BDKRB2-58T/C等位基因频率C、T分别为52.6%、47.4%,基因型频率分别为CC型24.8%、CT型55.6%、TT型19.6%。

Polymorphism of HLA-DQB1 promoter region in Hans IDDM patients and normal controls have been identified by PCR, PCR/SSCP and PCR/sequencing methods.No differences were found in y and s box between patients and controls carrying different allele as well as in different ethnic groups. There are two different sequences in x box,but CCTAGAGACAGATT sequence locates frequently on the haplotype with DQB1.0302 allele. Polymorphism between transcription point and y box (at position -44~-46 and -59~-61) might be associated with the genetic susceptibility to IDDM. Additionally,a new single base mutant (CACC→CAC A ) was found at position -131 and -128 in two patients carrying DQB1.0601 allele.

结果显示携带不同等位基因的患者与对照者DQB1 5'-调控区y、s box核苷酸序列相同,且与白种人基因结构一致;y box核苷酸序列存在二种结构,CCTAGAGACAGATT序列常常与DQB1.0302等位基因在同一单倍型;转录起始位点至y box间-44至-61位存在多态性,-59至-61位AAG等位基因可能与1-型糖尿病易感相关联;在2例携带DQB1.0601等位基因患者的-131至-128位间发现CACC→ACA A单个碱基取代突变。

There may be synergistic action between D and T alleles in pedigreed primary hypertension.

结论家族性原发性高血压与ACE基因I/D多态性及CYP11B2基因T(-344)C多态性之间具有相关性。D及T等位基因频率增高是原发性高血压患者家族中ACE基因I/D多态性及CYP11B2基因T(-344)C多态性的分布特点。D及T等位基因可能在家族性原发性高血压遗传中起协同作用。

It is shown that PTDT is a robust and valid approach for mapping QTL of threshold traits. Moreover, PTDT is powerful for marker with multiple alleles and multiple tightly linked markers, too. From the results of simulation on quantitative traits, following conclusions can be derived.

结果表明:(1)PTDT是一个稳健的QTL定位分析方法,在各种参数组合下,其假阳性概率(1型错误)都在设定的显著性水平附近;(2)PTDT不仅可以检测到效应较大的QTL,而且对效应较小的QTL检验功效依然很高;(3)对各种状态1发生率的阈性状PTDT检验功效也很高;(4)对利用多等位基因标记、多个紧密连锁的标记的QTL定位,PTDT依然是一个高效方法。

As PTDT does in threshold traits, PTDT is valid not only for different QTL effect level, but also for maker with multiple alleles and multiple tightly linked markers.(2) Under an appropriate selection ratio s (in this study, s is 0.2, 0.4, 0.6, 0.8, respectively), the power of PTDT can be improved and the genotying individuals can be decreased using selective genotyping design. However, the power of PTDT is related with population size and population structure, an appropriate selection ratio can be defined by simulation based on the existing data.(3) Among the three transforming methods, mixed-family selection is the best, full-sib selection has same power to mixed-family selection in many parameter combinations, and Estimated Breeding Value selection is inferior to them.

数量性状QTL定位的模拟研究结果表明:(1)数量性状经有效转化后,PTDT对数量性状QTL定位保持了阈性状QTL定位的稳健与高效,对不同效应大小的QTL(10%,30%,50%)PTDT都是一个有效的分析方法;(2)在多等位基因标记、多标记方面,PTDT的检验功效与阐性状分析时一样高效;(3)在合适的选择率下(本研究的分别为0.2,0.4,0.6,0.8,1.0),选择性基因型测定不仅可以减少基因型测定的数量,而且可以提高PTDT的检验功效,但选择性基因型测定的PTDT检验功效很大程度上与群体大小和结构有关,这个可根据具体情况通过模拟找到一个合适的选择率;(4)三种转化方法的转化效力结果表明,家系内混合家系选择的转化效力最高,家系内全同胞选择次之,估计育种值选择的转化效力较差。

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