ABO血型遗传习题一例

《日本中学生物课基础》一书中(第194页)有这样一道试题(本题有增改): 人类的ABO血型系统是遗传的。该血型系统决定于I~A、I~B和i三个基因。基因I~A、I~B对i是显性,基因型I~AI~A和I~Ai的个体为A型血;基因型I~BI~B和I~Bi的个体为B型血;基因型     

MKL1基因多态性与高原环境适应性的遗传关联研究

高原环境适应性与遗传因素密切相关,已有多个基因被报道与高原环境适应性显著相关。巨核细胞白血病因子1(megakaryoblastic leukemia 1,MKL1)是一种转录调节因子,在平滑肌细胞的表型调变中发挥重要作用。为探讨MKL1基因是否与高原环境适应性相关,本研究进行了MKL1基因多态性与高原环境适应性的遗传关联分析。本研究招募了世居青藏高原的藏族人群(n=595)和世居平原地区的汉族人群(n=442),并采用MassARRAY阵列图谱技术对MKL1基因的多态性位点rs59098711进行基因分型,比较了其基因型及等位基因型在两组人群中的分布是否存在显著差异。结果发现,在藏、汉两组人群间rs59098711位点的基因型和等位基因型频率存在显著差异(P0.05)。进一步通过与公共数据库比较发现,藏族人群中rs59098711的基因型及等位基因型的频率分布与其他人种存在显著差异(P0.05)。生物信息学分析表明,rs59098711位点位于MKL1基因增强子区域,与MKL1基因表达的调控密切相关。同时,基于公共数据集进行的基因差异表达分析发现,MKL1基因在低压性缺氧环境中显著上调。以上研究结果表明,MKL1基因的多态性位点rs59098711与人类的高原适应能力存在相关性。     

植物体细胞遗传学研究的进展

一、前言体细胞遗传学研究始于本世纪五十年代初期。作为一种分析基因型和合成新基因型的工具,体细胞遗传学研究的对象,从霉菌开始,进入哺乳动物细胞,特别是人类细胞,使得这一新的学科得到很大发展,以后又发展到高等植物领域。本世纪六十年代末至七十年代初,由于花药培养与原生质体培养技术的建立,以后又发展了在细胞水平上     

人类变异组计划及其进展

基因组学构建了人类的基因组图谱,后基因组时代的主要任务是解释基因组如何影响生命活动,由此产生了各种新类型的组学:结构基因组学,功能基因组学,蛋白质组学,代谢组学等。人类基因组突变学会于2006年6月在澳大利亚的墨尔本会议上正式启动了人类变异组计划。该计划旨在全球范围内广泛收集所有基因和蛋白质序列变异和多态性的数据,采用全基因组级别的基因型与表型关联等方法,系统地搜索并确定与人类疾病相关的变异,以指导临床应用。鉴于该计划对人类健康领域将产生的潜在影响,文章较为全面地介绍了该计划的起源和主要内容,并对其意义和前景进行了讨论。     

中国地区汉族人类血小板抗原基因多态性研究

为探讨中国汉族人群的人类血小板特异性抗原(human platelet antigens,HPA)的基因多态性特点并对南北方汉族人群进行比较,本研究合并了24个地区的28篇HPA基因多态性调查文献中HPA-1、HPA-2、HPA-3、HPA-4、HPA-5、HPA-6和HPA-15的基因分型数据,利用统计学方法及相关软件进行整理,并对整理后数据进行对比分析。结果显示HPA-1、HPA-2、HPA-3、HPA-4、HPA-5和HPA-6位点的a、b基因频率差距很大且bb基因型频率接近于0,而HPA-3和HPA-15位点的a、b基因频率差距不大。南北方汉族人群的比较中,HPA-1和HPA-5的基因分型有所差异,而HPA-2的基因型频数分布差异有统计学意义(p0.05)。此结果旨在获取人类血小板抗原基因多态性的特点并提供建立人类血小板抗原数据库的相关资料,对临床输血的指导具有重要意义。     

谈系谱分析中的一个概率问题

人类遗传学中常涉及到系谱分析问题。通过对某个家系的遗传分析,不仅可以了解这个家系中各个成员的基因型分布情况,而且还可估计他们婚配后所生子女出现各种基因型的概率,因此,系谱分析与概率分析有着密切的关系,如果对这类问题不加注意,很容易得出错误结论。特别当...     

“人类遗传病”专题复习教学设计

“人类遗传病”在高考中作为遗传学知识考查的良好素材,常以遗传系谱图的形式出现,考查的内容主要有：遗传病类型的判定、基因型和表现型的推断、遗传概率的计算、优生优育的措施等。为此,笔者应用案例教学法设计了一节关于人类遗传病的专题复习课并加以实践,具体过程如下。     

一个基于熵的指数精细定位人类复杂性状位点

近来,一个基于熵的指数被提出用来对人类复杂性状位点进行连锁不平衡定位．这个熵指数比较了患病个体与正常个体或极端样本之间标记基因频率的熵和条件熵．本文基于熵理论,提出了另一个备选指数．这个新的指数比较患病个体与正常个体之间标记基因型频率的熵和条件熵．计算机模拟结果表明本文提出的新指数平行于之前的熵指数．而基于遗传性血色病（hereditary haemochromatosis,HH）数据的分析表明了这个新指数能有效对人类复杂性状位点进行精细定位．     

枣不同基因型在体愈伤芽再生能力评价与同质多倍体新种质创制

枣树田间在体愈伤途径同质多倍体诱导新技术可有效避免倍性嵌合体产生,快速获得纯多倍体。在体愈伤芽再生是该技术成功应用的基础。利用该技术,对115个枣和4个酸枣基因型的田间愈伤芽再生能力进行了评价,并对4个枣基因型进行了多倍体诱导。结果表明:94.78%的枣基因型和100%的酸枣基因型可诱导出愈伤组织,80%的枣基因型和100%的酸枣基因型实现了芽再生。不同枣基因型间出愈率存在显著差异,变幅为0~100%,平均出愈率为76.48%,变异系数为37%;基于出愈率将供试基因型分为5类,即易出愈伤、较易出愈伤、较难出愈伤、难出愈伤和不出愈伤基因型。不同基因型的平均单枝截面出芽数差异显著(0~10.33个),平均出芽数为1.84;据出芽率也可将供试基因型分为5类,即易出芽、较易出芽、较难出芽、难出芽和不出芽基因型。出愈率和出芽率没有显著相关性,易出愈伤的基因型不一定易出芽。利用田间愈伤途径同质多倍体诱导新技术,获得了乐金1号、宁夏长枣、运城婆婆枣3个枣品种的纯四倍体新种质和磨盘枣的纯三倍体新种质。     

枸杞岛养殖贻贝中诺如病毒污染情况调查与分析

为了解养殖场内贻贝的诺如病毒（Norovirus,NoVs）污染情况和基因型分布特点,分别于2019年4月和9月在浙江省舟山市枸杞岛后头湾和龙泉村贻贝养殖场近岸和远岸区域进行贻贝样本采集及诺如病毒检测,共检测670只贻贝样本,诺如病毒阳性率约9.9%（66/670）。离人类活动区域较近的贻贝,诺如病毒阳性率占总阳性率的72.7%（48/66）,远岸的贻贝诺如病毒阳性率占总阳性率的27.3%（18/66）。共检测到6种诺如病毒基因型,分别为GI.3（36.4%）、GI.4（19.7%）、GII.12（18.2%）、GII.17（13.6%）、GII.3（10.6%）和GII.2（1.5%）。研究表明,枸杞岛养殖场中诺如病毒污染率较高,涉及基因型较多,人类活动对养殖场内贻贝中诺如病毒的富集量具有一定影响。     

Deoxyribonuclease I gene polymorphism in Han Chinese population: frequency and effect on glucose and lipid parameters

DNASE1, the encoding gene of deoxyribonuclease I (DNase I), exhibits polymorphisms, including a single nucleotide polymorphism (SNP A2317G) in exon 8 and a 56 bp variable number of tandem repeat, designated as HumDN1 in intron 4. Several different ethnic population studies have revealed both A2317G and HumDN1 demonstrate genetic heterogeneity in the worldwide distribution. Recently, G2317 allele was proposed as an independent risk factor for myocardial infarction in Japanese population. In the present study, we identified A2317G and HumDN1 genotypes in 402 unrelated healthy Han Chinese individuals. At the same time, the impact of different genotypes and diplotypes of DNase I on plasma lipids levels and fasting blood glucose was also illuminated. Polymerase chain reaction and restriction fragment length polymorphism were used for the detection of HumDN1 and A2317G polymorphisms. Plasma glucose and lipids were measured in fasting state by biochemical methods. Three genotypes of A2317G and 9 genotypes of HumDN1 were detected in Han Chinese population. Among them, the most predominate alleles were A2317 (frequency = 53.6%) and HumDN1*3 (frequency = 47.4%) respectively. Linkage disequilibrium between A2317G and HumDN1 polymorphisms was also observed (D' = 0.717). Haplotype A-3, presented in frequency of 46.5%, was most common. Compared to other ethnic populations, Han Chinese had its own unique DNase I gene distribution characteristics. As for the influence of DNase I gene polymorphisms on lipids and glucose levels, no association was found between either genotype or diplotype and these parameters. (all P > 0.05). Results obtained in this study could be used for anthropological investigation, probing into relations between DNase I gene and diseases.     

广东少数民族Morquio综合征StuI位点的RFLP分析

研究广东少数民族群体GALNS基因StuI位点的遗传多态性以及该位点等位基因片段传递的规律,为今后的连锁分析打下基础。采用PCR-RFLP方法,对72例无血缘关系的健康广东少数民族个体的144条染色体和3个家系9位成员的18条染色体进行检测,然后用χ2检验进行统计学处理。等位基因片段D1的频率为0.70, D2为0.30,杂合率为29%,D1、D2的传递规律与理论上预计的完全符合。广东少数民族群体中StuI位点具有多态性,其基因频率（D1和D2）与国外高加索群体的有显著差别,与日本群体及中国南方汉族群体的则无显著差别;而杂合率与高加索群体及日本群体的均有显著差异,但与中国南方汉族群体的则无显著差异。 Abstract:To investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated healthy national minority individuals,and the genotypes of members in three families.To compare the frequencies and heterzygosity between Guangdong national minority people and Caucasians,Japanese and Chinese Han people by using χ2 test.The frequency of allele D1(295bp) was 0.70,allele D2(138 plus 157 bp)0.30,the heterozygosity was 29%.The genotypes of each member of all families detected were completely agreement with the theorical assessment.The site of StuI in the GALNS gene from national minority population in Guangdong has polymorphism.There is significant difference between Guangdong national minority population and Caucasians in Western countries,but no significant difference was found between Guangdong national minority population and Japanese and Chinese Han population.In addition,there is significant difference between Guangdong national minority population and Caucasians and Japanese in the heterzygosity,but no significant difference between Guangdong national minority population and Chinese Han population.The transmission of alleles was completely in agreement with the Mendelian genetic law.     

Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta

Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and three sporadic cases. The mutations were detected by PCR and direct sequencing. Four mutations in COL1A1 and one in COL1A2 were found, among which three mutations were previously unreported. The mutation rates of G>C at base 128 in intron 31 of the COL1A1 gene and G>A at base 162 in intron 30 of the COL1A2 gene were higher than normal. The patients' clinical characteristics with the same mutation were variable even in the same family. We conclude that mutations in COL1A1 and COL1A2 also have an important role in osteogenesis imperfecta in the Chinese population. As the Han Chinese people account for a quarter of the world's population, these new data contribute to the type I collagen mutation map.     

云南汉族人群D17S30位点扩增片段长度多态性A

应用PCR技术和小型聚丙烯酰胺凝胶电泳银染法, 对云南汉族人群D17S30位点扩增片段长度多态性进行了分析。在被检的105名无关个体中,共检出12个等位基因,41种基因型。等位基因频率范围在0.0048-0.2190之间,杂合度为83.81%,DP值为0.9647。观察的基因型分布符合Hardy-Weinber g定律。 Abstract:A study on amplified fragment length polymorphism(Amp-FLP)at locus D17S30 in Han nationality of Yunnan was carried out by using PCR followed by a high-resolution PAGE technique and silver staining.In a sample of 105 unrelated individuals,a total 12 different alleles and 41 genotypes were detected.The heterozygosity was 83.81% and the probability of discrimination(DP) was 0.9647.The distribution of observed genotypes obeyed the Hardy-Weinberg equilibrium.     

中国人端粒酶催化亚基(hTERT)基因第六内含子VNTR多态性研究

端粒酶的激活在肿瘤发生、衰老以及细胞永生化过程中起重要作用,端粒酶催化亚基(hTERT)的表达是诱导端粒酶活性的限制性步骤,hTERT的表达受到复杂的调控。hTERT基因组全长40kh,包含16个外显子及15个内含子,其中,在第2和第6内含子中各存在2个可变数目串联重复(VNTR)多态性序列(VNTR2—1st、VNTR2—2nd以及VNTR6—1st和VNTR6—2nd),在第12内含子存在另一个单态性串联重复序列。通过对北京地区210例汉族健康人群hTERT基因第6内含子中36-bpVNTR6—1st的多态性进行调查研究．结果在调查人群中观察到18、20、21、22、23、26和35次重复共7种等位基因型以及14种基因型。基因型频率分布符合Hardy—Weinberg平衡。与韩国浦山地区调查人群类似,20、22及35次重复为最常见的等位基因型,这3种等位基因型频率占调查人群总数的94．76％。除了35次重复等位基因型频率与浦山地区人群存在差异外,其他基因型频率差异不显著。此外,除了在部分重复22次的等位基因型中VNTR5′端与浦山地区人群相同外,其他等位基因型中,北京地区汉族人VNTR6—1st5′端均存在53bD插入片段,显示出不同人种vNTR6—1st周边序列的差异性。北京地区汉族正常人群hTERT VNTR基因多态性资料为研究多态性与肿瘤或衰老的相关性提供了资料。     

HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people

Human leukocyte antigen (HLA) system is the most polymorphic region known in the human genome. In the present study, we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods-sequence-based typing (SBT) in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A*110101 (GF=0.2360), A*24020101 (GF=0.1646), and A*020101 (GF=0.1553); followed by A*3303 (GF=0.1180), A*3001 (GF=0.0590),     

应用SSP-PCR/SSO方法进行中国辽宁汉族人HLA-DRB1基因的遗传多态性研究

对１５９名中国辽宁汉族个体的基因组ＤＮＡ进行分析,共检出４２种等位基因,其中以ＤＲＢ１０９０１２（１２．８％）、０７０１（１０．７％）、１５０１（１０．４％）最为常见,其次为ＤＲＢ１１２０１（７９％）、１２０２（７５％）、１１０１（６６％）、０３０１（５．０％）。并发现辽宁汉族人ＤＲＢ１等位基因频率与白种人间存在明显差异,揭示不同人种有其自己的主要等位基因。同时对本技术在ＨＬＡ－ＤＲＢ１分型应用中的优点进行了讨论     

上海地区汉族人5-HT2a受体基因T102C多态性的基因频率分布

为了揭示中国汉族人5-HT2a受体基因T102C多态性基因频率的分布,我们随机抽取了226例汉族健康人作研究,用限制性片段长度多态性(RFLPs)技术测定研究对象的基因型和等位基因。结果发现汉族正常人5-HT2a受体基因T102C多态性基因型频率依次为:A1/A2=0.5044,A1/A1=0.2965,A2/A2 =0.1991,两种等位基因频率依次为:A1=0.5487,A2=0.4513,杂合度H=0.50 44、期望杂合度h=0.4953,多态信息量PIC=0.3726,表明T102C多态性具有合适信息,对疾病的关联研究,法医学鉴定有一定的价值。 Abstract:To investigate the distribution about genotype and allele frequencies of T102C polymorphism in the 5-HT2a receptor gene Chinese Han population,the genotypes and alleles of 226 healthy person were examined with Restriction Fragment Length Polymorphisms(RFLPs)technique.The genotype frequencies are as follows:A1/A2=0.5044,A1/A1=0.2965,A2/A2=0.1991,respectively,and the allele frequencies are as follows:A1=0.5487,A2=0.4513,respectively.The heterozygosity(H)is 0.5044,the expected heterozygosity(h)is 0.4953,and the Polymorphism Information Content(PIC)is 0.3726.Our findings suggest that the T102C polymorphism in 5-HT2a receptor gene may have suitable information to be used for association study or forensic identification.     

Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction

It is a long-standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query the genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D facial images; numerous biometric spaces were examined for divergent facial features between European and Han Chinese, ranging from inter-landmark distances to dense shape geometrics. Genome-wide association studies(GWAS) were conducted on a discovery panel of Uyghurs. Six significant loci were identified, four of which, rs1868752, rs118078182, rs60159418 at or near UBASH3B, COL23A1, PCDH7 and rs17868256 were replicated in independent cohorts of Uyghurs or Southern Han Chinese. A prospective model was also developed to predict 3D faces based on top GWAS signals and tested in hypothetic forensic scenarios.     

中国五个民族STR位点遗传多态性（2）

通过对我国汉回蒙藏维５个民族的５０个家系和５００份样本的ＳＴＲ基因扫描、基因分型和遗传结构分析,获得了ＳＴＲ基因传递方式及遗传特征的大量科学数据。研究结果表明在９个ＳＴＲ位点上汉族有６０种ＳＴＲ等位基因,１４９种基因型;回族有６３种ＳＴＲ等位基因,１４４种基因型;蒙古族有６９种ＳＴＲ等位基因,１７３种基因型;藏族有７７种等位基因,１６８种基因型;维吾尔族有７０种ＳＴＲ等位基因,１４８种基因型。中国