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The allelic diversity in terms of number of alleles per locus and expected heterozygosities in cultured populations N=8.0-9.4, H(subscript e=0.754-0.787 was considerably lower than that found in the wild populations N=11.3-15.0, H(subscript e=0.821-0.866. Allele distributions at all seven microsatellites indicated that the cultured populations lost some rare alleles belonging to wild populations. The small number and the biased sex ratio of abalone for hatchery broodstock might be responsible for the remarkable reduction of genetic variation in the studied populations.

结果表明,从等位基因数与杂合度上分析,养殖群体(N=8.0~9.4, H=0.754~0.787)遗传多样性显著低于野生群体N=11.3~15.0, H(下标 e=0.821~0.866;等位基因频率分布揭示出野生群体中一些稀有等位基因在养殖群体中有所丢失;亲鲍选用数量少与性别比例不均衡可能是产生养殖群体中遗传多样性显著减少的原因。

IGF2, which encodes a protein functioning as a fetal growth factor and a cell mitogen, is expressed only from paternally allele in most tissues but from both alleles in adult liver. H1 9, which acts as an RNA, is a gene of unknown function and expressed only from maternally allele.

IGF2编码的胰岛素样生长因子-2是一种胚胎生长因子及细胞有丝分裂原,在人体内大多数组织中特异地表达父系来源的等位基因,而母源等位基因处于印记状态。H19表达一种功能尚不清楚的RNA,其印记状态与IGF2相反,目前发现H19在正常组织内均为母源等位基因表达,父源等位基因印记。

Result: Contrary to European and American people, I allele frequency of Han nationality is higher than that of D allele (P.05); II genotype frequency and DD genotype frequency are noticeably different from that of European and American people (P.01); No DD genotype appear in the excellent athletes, which is noticeably lower than that of control group and athlete group (P.05) and that of the excellent athletes reported in other countries; the frequency distribution of II genotype in Marathon is noticeably higher than that in 5km distance running(P.10); The changing of I allele Jl genotype IP ID genotype frequency indicates a stronger unary liner relation (r=0.9985) with the running distance lengthening(5ktru lOkrru Marathon).

结果显示:与欧美人群相反,汉族I等位基因频率高于D等位基因(P<0.05);汉族II型纯合子频率和DD型纯合子频率非常显著地区别于欧美人群(P<0.01);在优秀运动员中,DD型纯合子未出现一例,显著低于对照组和运动员(P<0.05),也显著低于国外已报道的优秀运动员;马拉松项目II型频率分布显著高于5km(P<0.10);I等位基因、II基因型和ID基因型的频率变化伴随专项距离(5km、10km、马拉松)的增加呈现强相关的一元线性关系(r=0.9985)。

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。

These results indicated that the genetic variation within exon 2 appeared to have largely arisen by gene recombination and balancing selection. Alignment of the deduced amino acid sequences of the β1 domain coded by exon 2 revealed 6 synonymous mutations and 27 nonsynonymous substitutions at the 33 disparate sites.

对B-LBⅡ等位基因第二外显子所编码的B-LBⅡ分子β1结构域氨基酸序列比对发现,31个B-LBⅡ新等位基因属于26个等位基因主型;在β1结构域氨基酸序列的33个变异位点上,存在6个同义替换和27个错义替换。

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。

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。

A deletionof T base pair was detected at 7bp in intron 1 of sheep TNNC2 gene,which was named allele D.The frequency of allele D deleted was 0.78,0.77 and 0.71 in Small-tailed Han sheep,Tan sheep and Inner Mongolia sheep,respectively,and thedistribution of gene and genotype were no significant difference among the three sheeppopulations by X~2 test(p>0.05).The association analysis between the genotypes and meatquality traits indicated the genotypes significantly influenced sheep meat quality.

在供试绵羊群体中检测到TNNC2基因第一内含子第7bp处一个T碱基缺失,并命名为D等位基因。D等位基因在供试的小尾寒羊、滩羊及蒙古羊群体中频率分别为:0.78、0.77和0.71.x~2检验表明,该位点基因及基因型频率在小尾寒羊、滩羊和蒙古羊试验群体中差异不显著(P>0.05)。

A frameshift mutation at base position 217 of exon 1 and a T/C missense mutation at base position 59 of exon 3 were found in Yingjing angora rabbit with a high frequency; a T/C same-sense mutation at base position 3 of exon 3 was found with similar frequency in three rabbit breeds.

在外显子1的217位检测到由TCT三碱基插入引起的移码突变,在外显子3的59位和3位分别发生了错义突变由T→C和同义突变由T→C。通过计算发现各位点不同的基因型和等位基因频率在3个兔品种中存在较大的差异,位点A、B在长毛兔和肉兔中均有各自的优势基因型和等位基因。

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