基因频率及基因型频率的计算

高考及奥赛复习资料中很多有关基因频率或基因型频率计算的题目。不同情况下应采用不同的方法．现归纳如下：     

基因型和基因表型

基因表型修饰是基因功能的选择性激活和失活,与基因型相比,它包含了更有序更精确的基因信息。近来,许多调节蛋白如DNA甲基转移酶、甲基CPG粘附蛋白、组蛋白修饰酶、染色质重塑因子和它们的复合物被发现,在此基础上所进行的实验更明确了DNA转录、复制、突变、修复,染色质重组,染色体移位的分子基础。基因表型状态的异常决定了人类某些疾病,尤其是生长缺陷和肿瘤。因此,基因表型将成为未来生物医学发现的突破口。     

“基因频率与基因型频率”的教学点滴

必修2第7章第2节中“种群基因频率的改变与生物进化”是本节内容的重点,但其中的“基因频率与基因型频率”则是学生学习的难点,为了突破此难点,在教学过程中我把这部分知识进行整理、归纳,总结如下：一、基本概念的理解 基因频率是指特定基因在种群中出现的频率。     

人类血型的基因预测与分析

本文用孟德尔遗传规律研究了人类ABO血型系统的基因分布规律．我们得到人类ABO血型系统的基因分布理论上是稳定的．通过对武汉市血液中心的血型的分布数据和用血量分布数据分析发现：人类的健康与血型是相关的,而且纯A型血与纯B型血的人群所占的比例非常小,即武汉市每100人中只有5个人是纯A型血,3个人是纯B型血．我们还用基因网络系统解释了人类血型的一个奇特现象．     

对一个概率计算问题的分析

《生物学通报》2006年第4期“遗传学中基因频率和基因型频率的有关问题”一文中,例2的解法明显错误,分析如下:例2某人群中,每10 000人中有一白化病患者。有一正常女性(其父母均正常,其弟患白化病)与一正常     

关于遗传学教学中基因转变的理解

基因转变是高校遗传学教学内容中的一个难点,在刘祖洞教材中,基因转变虽作了一定的讲解,但限于篇幅及图示中存在的个别印刷错误,其描述仍不够清晰,而在高师、农业院校的遗传学教材中则往往缺少相关的内容,所以许多遗传学教师怕学生难以理解,常常避而不谈。笔者认为...     

关于经典遗传学中的基因和分子遗传学中的基因

今天我想借这次全国基因会议的机会,讨论一下有关基因和位点这两个概念。 按照孟德尔-摩尔根的遗传学说,基因是决定遗传性状的一小段染色体,并且可以通过杂交实验决定它在整个染色体上的位置,称为位点(Locus)。     

群体遗传学教学与研究辅助软件的设计与应用

为群体遗传学教学与研究的需要, 采用Visual Basic6.0开发设计了群体遗传学教学与研究辅助软件。软件设计综合考虑了影响群体结构各方面因素, 通过各种条件参数的设置、理论推算、计算机模拟和显示状态的选择, 以图、表的方式精确、形象直观地输出群体基因频率和基因型频率在世代间的变化、分布规律和统计特征。该软件无论从功能上, 还是从操作、界面上都是目前较为完善的教学与研究辅助软件。     

中国人eNOS基因VNTR多态性的基因型与等位基因频率

一氧化氮合酶（nitric oxide synthase,NOS）催化L－精氨酸的氧化反应生成L－瓜氨酸和一氧化氮（nitric oxide,NO）。NO可通过cGMP依赖的信号传导途径介导平滑肌细胞舒张,是调节血管张力的重要信使分子。NO尚可抑制血小板凝集,对血栓形成起重要调节作用。目前在哺乳动物中已发现细胞来源、表达方式和活性调节不同的3种NOS同工酶,分别为神经元型NOS（neuronal NOS,nNOS）、诱导型NOS（inducible NOS,iNOS）和内皮细胞型NOS(endothelial NOS,eNOS）。人的eNOS基因位于第7号染色体长臂（7q36）,全长约21kb,含有26个外显子和25个内含子。eNOS基因存在多个与心脑血管疾病相关的基因多态性位点。其中位于第4内含子的一个以27bp为核心的数目可变性串联重复序列（variable number of tandem repeat,VNTR）多态性位点,已被证实与原发性高血压、心肌梗死和静脉血栓形成有关。目前在我国尚缺乏NOS基因多态性在正常人群中基因型及等位基因频率分布的统计资料。为此,我们从316名健康中国人的基因组DNA检测了eNOS基因第4内含子VNTR多态性的基因型和等位基因,鉴定出重复6次、5次和4次的3种等位基因,以及6／5杂合、5／5纯合、5／4杂合和4／4纯合的4种基因型。同时我们将正常中国人eNOS基因VNTR多态性的基因型和等位基因频率与其他种族的相关资料进行了统计对比。结果表明,中国人eNOS基因VNTR的各种基因型和等位基因频率与日本人相似,4／4纯合基因型频率与高加索人差异显著,各种基因型和等位基因频率与非裔美国人均存在显著差异。     

The genetics of gene expression and gene mapping

A recent publication has shown that a significant portion of gene expression levels are under genetic control in different organisms, that there are hotspot regions in the genome that control the expression of many other genes, and how gene expression data can be used to localize genes that affect clinical traits.     

From genotype to phenotype: genetics and medical practice in the new millennium

The completion of the human genome project will provide a vast amount of information about human genetic diversity. One of the major challenges for the medical sciences will be to relate genotype to phenotype. Over recent years considerable progress has been made in relating the molecular pathology of monogenic diseases to the associated clinical phenotypes. Studies of the inherited disorders of haemoglobin, notably the thalassaemias, have shown how even in these, the simplest of monogenic diseases, there is remarkable complexity with respect to their phenotypic expression. Although studies of other monogenic diseases are less far advanced, it is clear that the same level of complexity will exist. This information provides some indication of the difficulties that will be met when trying to define the genes that are involved in common multigenic disorders and, in particular, in trying to relate disease phenotypes to the complex interactions between many genes and multiple environmental factors.     

Detection of two polymorphic sites in the human c-fms gene: allele frequency and genotype in some populations of Russia

Two polymorphic sites were found in the human c-fms gene: one (G-->A) was in position 34,047 in the last intron, and the other (dinucleotide TC-->CA) was in positions 34,293 and 34,294 in the 3'-untranslated gene region, 34 bp downstream of the translation stop codon. The polymorphic dinucleotide appeared to be immediately upstream of an octamer showing 100% homology to cis element -CAAACTTC-, which is responsible for controlled instability of mRNAs of several genes. Based on these data, functional significance was assumed for this polymorphism of the c-fms gene. Allele frequencies were established for several populations. The mutant allele of the polymorphism located in the intron were detected only in one family of ethnic Germans from the Altaiskii krai. Polymorphism of the second site, which is in the 3'-untranslated region of the c-fms gene, was observed in all Caucasoid and Mongoloid populations examined. Frequency of the rare allele varied from 19.7-25% in Arctic Mongoloids to 31-42.6% in Central Asian Mongoloids and was similar in two Caucasoid populations (22.6% in ethnic Russians and 26.5% in ethnic Germans). The wide distribution of the mutant allele in human populations of the two races was considered indicative of an adaptive role of the polymorphism in providing a certain level of the gene product, a receptor, in certain cell processes.     

Methods for delimiting species via population genetics and phylogenetics using genotype data

In species delimitation, a formidable goal in the discipline of systematic biology, we identify and describe species morphologically and ecologically based on phenotypic data. Efficient genotyping technologies produce genetic and genomic data with relative ease, which promotes species discovery and validation using genotype data. For the last two decades, we have seen the development of species delimitation methods based on genetic distances and phylogenetic trees using genotype data. However, speciation processes via evolutionary relationship among species were mostly divorced from species delimitation. Recent approaches to drawing species boundaries use multi-locus sequence data to account for evolutionary processes including speciation and gene flow. They allow us to learn of jointly speciation and species delimitation, leveraging computational and statistical techniques developed in population genetics and phylogenetics. Here, we review the recent progress in the development of species delimitation using genotype data and discuss the future outlook for the research of developing species delimitation methods.