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     

唐山汉族人ABO血型调查

随机检测421例唐山汉族人群的ABO血型,调查结果为：唐山汉族人群的ABO血型分布为A型占26．37％,B型占35．63％,O型占27．79％,AB型占10．21％,血型分布特征为B〉O〉A〉AB。各基因的频率为：p=0．2041,q=0．2648,r=0．5311,特征为r〉q〉p。唐山汉族ABO血型分布的民族指数为0．778。唐山汉族具有较高的B基因频率,具有北方人群的血型分布特点。     

中国人AB0 血型分布

人体血型作为一种遗传标记,在研究人类 种族起源和迁移中是个重要工具。ABO血型 是人类发现的第一个血型系统,由于鉴定方便, 已积累了中国人ABO血型分布的大量资料。 1963年尚书颂等Ci7曾统计分析了15万左右中 国人ABO血型的分布资料,并根据“民族指数” (A十AB)/(B十AB）和各种血型比例,将我 国各省区ABO血型分布划分为4种类型。     

贵州三都地区水族人群ABO血型分布

随机抽样贵州省三都水族自治县水族人群500例,进行ABO血型的检测分析。调查结果为：（1）水族的ABO血型分布为A型占29.41%,B型占22.06%,O型占44.12%,AB型占4.41%;特征为O>A>B>AB。基因频率是p=01871,q=01430,r=06699;特征为r>p>q。（2）水族ABO血型分布的民族指数为1.278。此次调查贵州省三都的水族具有较高的O基因频率,具有典型的南方人群结构特征。调查结果基本上与以前的文献资料相符,且符合我国省区血型频数分布规律。     

奇怪的血型——孟买型与类孟买型

主要介绍孟买型与类孟买型血型的发现,家谱分析和产生原因。孟买型与类孟买型是ABO变异体中发现的一种罕见血型,该类血型由于基因突变导致不能产生H物质,即使有A基因或B基因也不能产生A抗原或B抗原,在临床上常常被误认为。型血。     

襄阳市汉族大学生群体ABO血型调查与分析

为了解襄阳市汉族大学生群体ABO血型分布情况,应用标准血清玻片法测定ABO血型,并与其他地区汉族大学生群体ABO血型分布相比较。结果:襄阳市汉族大学生ABO血型分布频率A型占30.04%,B型占27.25%,O型占31.12%,AB型占11.59%,A、B、O基因频率p、q、r分别为0.2346、0.2167和0.5487。男、女生之间差异无统计学意义(Χ~2=1.77,P0.05),但和河南、山东菏泽地区汉族大学生群体ABO血型分布差异有统计学意义(Χ~2=39.89,P0.05)。结论:襄阳汉族大学生ABO血型分布特征OABAB;不同地区的汉族大学生群体ABO血型分布不同;血型分布特征与性别无关。     

血型的分子基础

本文仅就ABO、MN和HLA等血型的结构和功能进行扼要介绍。 (一)ABO血型系统 ABO血型系统又可分为A、B、AB和O型等四种血型。红细胞含A抗原和H抗原的叫做A型,A型的人血清中含有抗B抗体;红细胞含B抗原和H抗原的叫做B型,B型的人血清中含有抗A抗体;红细胞含A抗原、B抗原和H抗原,叫做AB型,这种血型的人血清中没有抗A抗体和抗B抗体;红细胞只有H抗原,叫做O型,O型的人血清中含有抗A抗体和抗B抗体。     

GoldenEye 16BT体系在ABO基因及亲子鉴定中的应用评估

目的:调查湖南地区汉族ABO血型及其基因型,评估GoldenEye 16BT体系在血型与亲子鉴定中的检验能力.方法:以533例亲子鉴定案例为基础,用抗A(B)血清检测1248个个体的血清学血型,观察和分析GoldenEye 16BT体系在ABO基因型检测和15个STR基因座的遗传学数据资料.结果:(1)1248个个体中,1245(97.76%)个个体的血清学血型与基因型检测结果相符,有3例O型血经基因检测发现1例含A基因、2例含B基因 .688名无关个体血清学血型A＞O＞B＞AB,等位基因频率O＞A＞B.(2)GoldenEye 16BT体系累计个体识别能力为0.9999999999999999971,累积非父排除率为0.999999999999971.533例亲子鉴定中有380例肯定亲权关系,153例排除亲权关系;11例中有1个STR基因座发生突变.结论:GoldenEye 16BT体系用于ABO基因型检测与亲权鉴定是高效、可靠的.     

ABO、MN血型及其与测量体征关系的初步探讨

本文提供了男、女两性共404人ABO、MN血型各表现型的35个体质特征测量数据,对血型和测量体征的关系进行了初步讨论。统计分析表明,不同血型群体的某些单个体征平均值之间有显著差异。对所调查的35个体征作整体分析,可见男性MN系统和女性ABO、MN系统各血型群体平均值之间差异显著。在MN血型系统,MN型群体的测量体征平均值低于M型和N型与MN基因型的杂合状态有密切关系。本文还分析了4个民族的血型资料,表明MN血型在ABO血型系统是随机分布的。     

中国人ABO血型分布

人体血型作为一种遗传标记,在研究人类种族起源和迁移中是个重要工具。ABO血型是人类发现的第一个血型系统,由于鉴定方便,已积累了中国人ABO血型分布的大量资料。1963年尚书颂等曾统计分析了15万左右中国人ABO血型的分布资料,并根据“民族指数”     

以人类血型为遗传学案例教学的思考与实践

血型是人类日常生活中非常常见的一种遗传表型, 拥有丰富的遗传学内涵。随着科技的发展, 其内涵不断得到新的揭示, 新的研究结果不断补充, 持续吸引着人们对血型遗传机制的探索。血型遗传案例除了与孟德尔遗传和连锁遗传、基因突变和染色体畸变四大内容关联外, 还涉及到其他多方面的遗传学知识点。在教学中, 依据遗传学的知识脉络, 贯穿以ABO血型作为经典案例, 结合拓展的白细胞血型, 孟买、Rh、MN等血型的遗传规律及其应用, 并且开展相关的实验教学, 理论联系实际, 增强了学生的兴趣, 提高了教学效果。在遗传学实验教学中, 有80%的学生选择ABO血型鉴定这个自选实验, 并表示出对这个实验的浓厚兴趣。在讲授相关知识点时, 用恰当的血型案例为引导, 设计相关的讨论主题, 开展PPT展示性讨论和辩论式讨论, 所有的学生都积极主动参与进来, 与现实生活相结合, 引导学生思考问题, 使学生的思维在辨析中得到操练, 提高分析问题和解决问题的能力, 深刻理解遗传学基本理论知识。     

Chromosomal and comparative mapping of rat oxytocin, oxytocin receptor and vasopressin genes

Oxytocin and its receptor are potentially important for cardiovascular functions. In the present paper, we report their chromosome locations in the rat and their comparative mapping with the mouse and human. They are located in chromosome regions previously known to contain quantitative trait loci for blood pressure in various genetic crosses. Thus, they have become valid candidate genes for genetic hypertension.     

Science,medicine, and the future. Hypertension.

The abundance of drugs now available for treating hypertension, and evidence that small reductions in blood pressure reverse the associated risk of stroke have shifted clinical concerns away from hypertension. However, we do not understand the cause of hypertension in 95% of patients, fail to achieve a normal blood pressure in 50% of patients, and are unable fully to reverse the cardiac and vascular changes that predate the diagnosis and treatment of hypertension. Consequently, hypertension remains the commonest cause of strokes in Britain and of renal failure in the United States. Essential hypertension is a polygenic disease whose understanding can now be advanced through molecular genetic analyses. Several different syndromes are likely to be recognised; most will be due to interactions between genetic and environmental factors, but there are also likely to be further monogenic syndromes in families with multiple affected members. Recognition of these syndromes will permit accurate genetic prediction of prognosis and optimal treatment and perhaps lead to new and more powerful classes of antihypertensive treatment.     

Complementation of vif-defective human immunodeficiency virus type 1 by primate, but not nonprimate, lentivirus vif genes.

The productive infection of many susceptible human cells, including lymphocytes and macrophages derived from peripheral blood, by the pathogenic lentivirus human immunodeficiency virus type 1 requires expression of the virally encoded vif (for virion infectivity factor) gene. Interestingly, this gene appears to have been conserved among all of the lentiviruses of primates and almost all of the lentiviruses of nonprimates. Using T cells constitutively expressing vif genes derived from diverse sources and virus replication assays, we show that the vif gene of a second primate lentivirus, simian immunodeficiency virus from macaques, complements vif-defective human immunodeficiency virus type 1 but that those of three distinct nonprimate lentiviruses do not. Although the molecular basis for Vif function has yet to be defined, the potential implications of this noted restriction of vif complementarity are discussed.     

Childhood absence epilepsy: genes, channels, neurons and networks

Childhood absence epilepsy is an idiopathic, generalized non-convulsive epilepsy with a multifactorial genetic aetiology. Molecular-genetic analyses of affected human families and experimental models, together with neurobiological investigations, have led to important breakthroughs in the identification of candidate genes and loci, and potential pathophysiological mechanisms for this type of epilepsy. Here, we review these results, and compare the human and experimental phenotypes that have been investigated. Continuing efforts and comparisons of this type will help us to elucidate the multigenetic traits and pathophysiology of this form of generalized epilepsy.     

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples

Summary Permanent lymphoblastoid cell lines are important in the molecular analysis and characterization of human genetic disorders, when immortalized cells must be banked for future diagnostic or research purposes. However, routine methods for transformation using Epstein-Barr virus (EBV) require blood volumes that may be difficult to collect from clinically compromised neonates and small children. Here we report a modified transformation procedure utilizing blood samples of small volume (less than 1.0ml), which we have found to be particularly useful for the immortalization of lymphocytes destined for future molecular genetic studies.     

Genome organization and nucleotide sequence of human papillomavirus type 33, which is associated with cervical cancer.

The 7,909-nucleotide sequence of human papillomavirus type 33, which is associated with cervical cancer, has been determined and used to deduce the corresponding genome arrangement. Extensive sequence homologies and other genetic features are shared with the related oncogenic virus, human papillomavirus type 16, especially in the major reading frames. A surprising difference was found in the noncoding region of human papillomavirus type 33 as, unlike all other sequenced papillomaviruses, it contains a perfect 78-base pair tandem repeat.     

A high-resolution genetic, physical, and comparative gene map of the doublefoot (Dbf) region of mouse chromosome 1 and the region of conserved synteny on human chromosome 2q35.

The mouse doublefoot (Dbf) mutant exhibits preaxial polydactyly in association with craniofacial defects. This mutation has previously been mapped to mouse chromosome 1. We have used a positional cloning strategy, coupled with a comparative sequencing approach using available human draft sequence, to identify putative candidates for the Dbf gene in the mouse and in homologous human region. We have constructed a high-resolution genetic map of the region, localizing the mutation to a 0.4-cM (+/-0.0061) interval on mouse chromosome 1. Furthermore, we have constructed contiguous BAC/PAC clone maps across the mouse and human Dbf region. Using existing markers and additional sequence tagged sites, which we have generated, we have anchored the physical map to the genetic map. Through the comparative sequencing of these clones we have identified 35 genes within this interval, indicating that the region is gene-rich. From this we have identified several genes that are known to be differentially expressed in the developing mid-gestation mouse embryo, some in the developing embryonic limb buds. These genes include those encoding known developmental signaling molecules such as WNT proteins and IHH, and we provide evidence that these genes are candidates for the Dbf mutation.     

Digital dermatoglyphic patterns of Eskimo and Amerindian populations: relationships between geographic, dermatoglyphic, genetic, and linguistic distances.

Dermatoglyphic traits have been used to assess population affinities and structure. Here, we describe the digital patterns of four Eskimo populations from Alaska: two Yupik-speaking villages from St. Lawrence Island and two Inupik groups presently residing on mainland Alaska. For a broader evolutionary perspective, these four Eskimo populations are compared to other Inuit groups, to North American Indian populations, and to Siberian aggregates. The genetic structures of 18 New and Old World populations were explored using R-matrix plots and Wright's FST values. The relationships between dermatoglyphic, blood genetic, geographic, and linguistic distances were assessed by comparing matrices through Mantel correlations and through partial and multiple correlations. Statistically significant relationships between dermatoglyphics and genetics, genetics and geography, and geography and language were revealed. In addition, significant correlations between dermatoglyphics and geography, with linguistic variation constant, were noted for females but not for males. These results attest to the usefulness of dermatoglyphics in resolving various evolutionary questions concerning normal human variation.