用超显性模型估计遗传多态平衡的种群参数

基于超显性模型,采用数学方法阐述了种群遗传多样性的延续机制及平衡条件,从双等位基因导出的定律有较大的局限性,在许多教科书中常用的估计平衡态基因频数的定律只适用于双等位基因,本文用另一种方法导出一些公式,将其扩展到多等位基因,讨论了种群中基因数ｎ,遗传负载荷（Ｌ）,杂合频ＹＸ（Ｈｅ）和纯合频率（Ｈｏｍ）之间的关系。     

最大信息熵原理与群体遗传平衡

建立了用最大信息熵原理推导群体遗传平衡定律的统一数学模型,并给出了模型的统一解,此解正是Hardy-Weinberg定律所给出的平衡群体的基因型频率,说明当群体信息熵达到最大时,群体基因型频率不再变化,即达到“平衡”。这证明了最大熵分布就是Hardy-Weinberg平衡分布。Hardy-Weinberg平衡定律与最大信息熵原理的内在一致性说明,杂交和随机交配是一个不可逆过程,使群体基因型信息熵增大,无序性增,是选择和近亲交配使群体的信息熵降低,有序性增加,育种过程实际就是调节群体信息熵的过程。过程信息熵的含义是表示一个概率分布的不确定性,最大熵原理意味着在一定的约束条件,选择具有最大不确定性的分布,从而其分布是最为随机的。最大熵原理在信息,工程,天文,地理,图像处理,模式识别等自然科学和社会科学领域都有广泛的成功应用,本文从群体遗传学角度证明了这一原理具有普遍适用性。熵是描述系统状态的函数,而最大熵原理则表明了系统发展变化的趋势,系统的最终状态必然是熵增加至最大值的状态,对于任何系统都是如此。因此,群体遗传系统的平衡定律可以统一用最大熵原理进行判定和描述;任意群体的基因型信息熵在随机交配世代传递时有不断增加的趋势;在一定约束条件下基因型信息熵达到最大值时,就称之为达到遗传平衡。本文将信息论原理应用于群体遗传学研究,揭示了基因信息熵的生物学意义,并表明可以用信息学和控制论的原理和方法来研究群体遗传学问题。     

Genetic Demographic Survey of the Gagauz Population of Moldova

The genetic demographic structure of the Gagauz population of Moldova has been described for the first time. Data of interviews and official records have been used to analyze the sex and age structure of the population and marriage relationships, as well as to estimate the effective sizes of the populations of six settlements and selection intensity (according to Crow's formula). The demographic data indicate that social transformations have substantially affected the genetic demographic parameters of the population. The gene exchange rate per generation has been determined (m = 0.0204 in 1972 and m= 0.0309 in 1997). The estimated ratio between the components of Crow's index (I _m < I _f) in the Gagauz population is similar to those for the populations of developed countries with traditionally rural lifestyles. The study of marriage relationships of the Gagauz population has shown that Gagauzes are intensely mixing with Moldovans, Bulgarians, Russians, and Ukrainians.     

Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.

An analytical isoelectric focusing method in 3 M urea followed by immunoblotting has been devised to detect genetic and biochemical variation in the glycoprotein hemopexin (HPX) in human plasma or serum. HPX reveals extensive microheterogeneity with multiple major and minor components that are susceptible to neuraminidase treatment, suggesting that the observed biochemical variation is due to differences in sialic acid content between HPX isoproteins. However, charge differences that persist in HPX isoproteins following neuraminidase treatment suggest the presence of genetically determined HPX variation, and this is confirmed by population and family studies. HPX was found to be monomorphic, with an invariant pattern, in U.S. whites; but it is polymorphic in U.S. blacks, with three alleles controlled by a single locus, a situation that demonstrates an autosomal codominant pattern of inheritance. The HPX 1, HPX 2, and HPX 3 allele frequencies in U.S. blacks are .941, .018, and .041, respectively.     

Genetic and Demographic Structure of the Yakut Population: Reproduction Indices

Genetic and demographic information for the Yakut population living in the Republic of Sakha (Yakutia) is presented. The mean number of children per woman constituted 4.605. Crow's index (I _tot) and its components (I _m and I _f) were 0.483, 0.104, and 0.343, respectively.     

中国广州人备解素因子B遗传多态现象

本文应用高压琼脂糖电泳,继以免疫固定技术,对259名居住在广州市无亲缘关系的健康成年人进行了BF多态性分析。除了SS、FS、FF和SS07外,还观察到2种罕见杂合型,暂命名为SSGI和SFG2。计算出的基因频率分别为:FB~*S∶0.8668,BF~*F∶0.11979 BF~*S07∶0.0077,BF~*SG1∶0.0019,BF~*FG2∶0.0039。家系调查证实BF FG2确系一独立的变异型,并显示常染色体共显性遗传方式。     

中国汉族人群间-α-胰蛋白酶抑制因子(ITI)的遗传多态性

我们建立了测定间-α-胰蛋白酶抑制因子遗传表型的聚丙烯酰胺凝胶等电聚焦免疫固定技术,应用这种方法对居住在成都地区的汉族群体进行了群体研究和家系调查,结果表明中国汉族人群间-α-胰蛋白酶抑制因子具有遗传多态性,它有希望成为法医血液遗传学新的遗传标记。     

The Genetic Structure of a Tribal Population, the Yanomama Indians. VI. Analysis by F-Statistics (Including a Comparison with the Makiritare and Xavante

The infra-structure of three relatively undisturbed tribes of American Indians (Yanomama, Makiritare, Xavante) has been investigated by means of the F-statistics of Wright, using 8, 9 and 6 codominant systems respectively. The data for the first two mentioned tribes are much more extensive (37 and 7 villages) than for the third (3 villages), and much of the argument is based on the first two. An additive model partitioning F(IS) into an average effect (F(A)) and deviations due to deme size, systems effects, village effects, and random error has been employed. The Cannings-Edwards formulation suggests that the small size of the demes alone would result in an F(IS) of -0.008 for the Yanomama and -0.007 for the Makiritare. There is no evidence for significant village or systems effects. Despite considerable scatter, F(A) values are not significantly heterogeneous and tend to be negative (-0.012 to -0.023). On the basis of a computer simulation model, it appears that there is an excess of consanguineous marriage over random expectation, i.e. the negative F(A) values are probably not due to avoidance of close inbreeding in a subdivided population in which demes are small. Aspects of population structure which could contribute to negative F(A) values are identified. These include unequal gene frequencies in the sexes and occasional marked differential fertility. It is at this point unnecessary to introduce overdominance as a cause of the negative F(A) values, since a computer simulation program which does not incorporate selection satisfactorily reproduces the observed F(IS) values. If population breeding structure alone can result in negative F(IS) values, then this may constitute a mechanism for retarding random fixation.-Mean F(ST) values are 0.063 for the Yanomama and 0.036 for the Makiritare. While truly comparable data are lacking, it seems likely these will be found to be relatively high values for human populations. F(IT) values have been calculated by both direct and indirect approaches. The direct approach yields a value of 0.045 for the Yanomama and -0.009 for the Makiritare; the respective indirect values are 0.085 and 0.017. The primary identifiable reason for this difference between tribes is the greater genetic heterogeneity among Yanomama villages. The assumptions underlying the indirect approach to the calculation of F(IT) do not appear to be met in these populations.     

Reconciling Genetic and Demographic Estimators of Effective Population Size in the Anuran Amphibian Bufo Calamita

We used genetic and demographic methods to estimate the variance effective population sizes (N _e) of three populations of natterjack toads Bufo calamita in Britain. This amphibian breeds in temporary pools where survival rates can vary among families. Census population sizes (N) were derived from spawn string counts. Point and coalescent-based maximum likelihood estimates of N _e based on microsatellite allele distributions were similar. N _e/N ratios based on genetic estimates of N _e ranged between 0.02 and 0.20. Mean demographic estimates of N _e were consistently higher (2.7–8.0-fold) than genetic estimates for all three populations when variance in breeding success was evaluated at the point where females no longer influence their progeny. However, discrepancies between genetic and demographic estimators could be removed by using a model that included extra variance in survivorship (above to Poisson expectations) among families. The implications of these results for the estimation of N _e in wild populations are discussed.     

湖南省汉族人群15个STR基因座多态性分析

应用美国AmpFISTR Indentifiler荧光标记复合扩增试剂盒,结合PE9700型PCR仪和美国ABI公司310型遗传分析仪,对湖南汉族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、vWA、TPOX、D18S51、D5S818和FGA共15个STR基因座进行多态性调查分析．结果显示15个STR基因座的基因型分布符合Hardy．Weinberg平衡。其杂合度（H）介于0．593～0．900,多态信息含量（PIC）介于O．54～0．85,个体识别力（DP）介于0．780～0．963,非父排除率（PE）介于0．282～0．785,累计个体识别力为（1～1．6&#215;10^-17）〉0．99999999。累计非父排除率为0．9999995．证明15个STR基因座在湖南省汉族人群中具有较高的多态性。可应用于该地区群体学研究、法医学个体识别和亲权鉴定等．     

Dynamics of the Genetic Demographic Structure of the Kursk Oblast Population: Migration Processes

Marriage records from parish books of the second half of the 19th century and marriage records of 1967–1970 and 1993–1995 obtained from registry offices were used to analyze the dynamics of genetically significant parameters of migration and marriage structure with respect to spouses' birthplaces in populations of different hierarchical levels in the Kursk oblast. It was found that, among the persons contracting marriage (both males and females), the proportions of those who were born in the same population and those who were born in any population of the Kursk oblast decreased by about one third and one fifth, respectively, for the 130-year period. In rural and small urban populations, the coefficients of marriage migration in the 19th century were an order of magnitude lower than in the 20th century. The immigration to urban populations was maximum in the late 1960s (m = 0.745 in small towns and m = 0.680 in Kursk), and that to rural populations, in the 1990s (m = 0.344). In both urban and rural populations, the mean distance between the spouses" birthplaces has increased by several times for the period studied. The endogamy level has decreased approximately twofold: from 0.797 to 0.380 in Kursk, from 0.897 to 0.419 in small towns, and from 0.958 to 0.440 in rural districts. The marriage assortativeness with respect to birthplace was maximum in the late 19th century (K = 0.393–0.491) and minimum in the 1960s (K= 0.155–0.246). The increase in genetic diversity of the urban population of the Kursk oblast due to migration has been slowing down since the late 20th century, whereas the outbreeding level is still increasing in rural populations.     

Genetic Coadaptation in the Chromosomal Polymorphism of DROSOPHILA SUBOBSCURA. I. Seasonal Changes of Gametic Disequilibrium in a Natural Population

Seasonal changes in gene arrangement and allozyme frequencies have been investigated in Drosophila subobscura for several years. Some arrangements (O_st and O₃₊₄₊₇) show seasonal variation, which suggests that chromosomal polymorphism is flexible in this species. Seasonal changes in allozyme frequencies for Lap and Pept-1 loci, both located within the same inversions of chromosome O, are significant only inside the O_st arrangement, but not inside O₃₊₄ arrangement. This arrangement-dependent response of allozyme generates variation in arrangement-allozyme disequilibrium. The historical hypothesis on the maintenance of disequilibria cannot explain these seasonal changes, and some kind of natural selection must be invoked. Association between Lap and Pept-1 is also seasonal inside O_st but not inside O₃₊₄. We propose that O_st probably consists of a finite array of supergenes that are differentially favored in each season by natural selection. The present evidence on this supergene selection and other genetic, biogeographic and phylogenetic data points to O₃₊₄ as the most primitive gene order among the present arrangements.     

Demographic Analysis of a Disjunct Population of Froelichia floridana in the mid-Ohio River Valley

Froelichia floridana (cottonweed) occurs as a disjunct population along the Ohio River in southeastern Ohio. The anomalous occurrence of F. floridana in this area has led to its designation as a state endangered species and a management regime to maintain the habitat conditions in which it occurs. As part of this effort, a restoration site was established on public lands in 1984 from seed collected in areas threatened by development. This study seeks to determine the demographic characteristics of this species in the restored and non‐restored managed sites to provide basic ecological information regarding life history parameters and to judge the effectiveness of the restoration. For two years (1997–1998) we collected information on seed bank abundance, field seed germination, plant survivorship, and seed production to create a stage‐based transition matrix model. The model suggests that population growth and abundance as assayed by λ (rate of increase) are stable to declining and are similar between the restoration and natural sites. A reduction in competition had a positive effect on population growth. Elasticity analysis showed that plants germinating earlier in the spring and becoming established as an early cohort contributed a greater level of reproductive output than plants germinating in late spring. Lowered population growth for 1997 is attributed to a cooler and dryer than average early spring that delayed germination and subsequent seed production. Elasticity analysis also suggested that the presence of a persistent seed bank was crucial for long‐term population maintenance and may allow for recovery in areas of low aboveground abundance through soil manipulation.     

Population Genetic Structure and Demographic History of Atrina pectinata Based on Mitochondrial DNA and Microsatellite Markers

The pen shell, Atrina pectinata, is one of the commercial bivalves in East Asia and thought to be recently affected by anthropogenic pressure (habitat destruction and/or fishing pressure). Information on its population genetic structure is crucial for the conservation of A. pectinata. Considering its long pelagic larval duration and iteroparity with high fecundity, the genetic structure for A. pectinata could be expected to be weak at a fine scale. However, the unusual oceanography in the coasts of China and Korea suggests potential for restricted dispersal of pelagic larvae and geographical differentiation. In addition, environmental changes associated with Pleistocene sea level fluctuations on the East China Sea continental shelf may also have strongly influenced historical population demography and genetic diversity of marine organisms. Here, partial sequences of the mitochondrial Cytochrome c oxidase subunit I (COI) gene and seven microsatellite loci were used to estimate population genetic structure and demographic history of seven samples from Northern China coast and one sample from North Korea coast. Despite high levels of genetic diversity within samples, there was no genetic differentiation among samples from Northern China coast and low but significant genetic differentiation between some of the Chinese samples and the North Korean sample. A late Pleistocene population expansion, probably after the Last Glacial Maximum, was also demonstrated for A. pectinata samples. No recent genetic bottleneck was detected in any of the eight samples. We concluded that both historical recolonization (through population range expansion and demographic expansion in the late Pleistocene) and current gene flow (through larval dispersal) were responsible for the weak level of genetic structure detected in A. pectinata.