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Please select the single best answer for each of the following questions.
A human cell at prophase II of meiosis will normally have how many centromeres? (a) 46, (b) 45, (c) 92, (d) 23, (e) none of the above.
An individual carries a pair of homologous chromosomes, A and a. A cell at mitotic metaphase or at metaphase I of meiosis has (a) one A and one a chromosome, (b) two A and two a chromosomes, (c) four A and four a chromosomes, (d) none of the above.
A cell from the same individual at metaphase II of meiosis has (a) one A and one a chromosome, (b) either one A or one a chromosome, (c) two A and two a chromosomes, (d) either two A or two a chromosomes.
Bivalents are seen (a) at prophase I of meiosis, (b) at prophase II of meiosis, (c) at prophase of mitosis, (d) at prophase I of meiosis and at prophase of mitosis, (e) at prophase II of meiosis and at prophase of mitosis, (f) during the interphase just prior to the beginning of meiosis.
Histone proteins are found in (a) eukaryotes only, (b) bacteria only, (c) viruses only, (d) both eukaryotes and bacteria, but not viruses.
Centromeres associated with duplicated chromosomes (sister chromatids) do not divide during (a) mitotic anaphase, (b) anaphase I of meiosis, (c) anaphase II of meiosis.
A chromosome with a long arm and a short arm is called (a) telocentric, (b) egocentric, (c) epicentric, (d) metacentric, (e) acrocentric, (f) paracentric, (g) chromocentric.
In order to evaluate the genotype of the calpastatin (CAST) gene and its relationship to muscle histology and other post mortem traits in the Jinhua × Piétrain F2 pig family, 158 barrows and gilts were electrically stunned and exsanguinated. Both blood and muscle samples were collected, and both post mortem traits and meat qualities were recorded. Restriction fragment length polymorphism (RFLP) analysis, the periodic acid Schiff reaction (PAS) and myosin heavy-chain immunohistochemistry were employed to explore the relationship between genotype and muscle histology. Based on PAS reactivity, muscle fibres can be classified into three types: PAS (−), PAS (+) and PAS (++). Myosin heavy-chain immunohistochemistry can differentiate muscle fibres into either slow or fast fibres; the proportion of slow and fast fibres were 6% and 94%, respectively. When the amplification products of the CAST gene were digested with MspI, HinfI and RsaI, two different cleavage patterns could be discriminated from the endonuclease map detected using each enzyme. The results showed that the polymorphisms detected using these three endonucleases are identical. Only three genotypes (AA/CC/EE, AB/CD/EF and BB/DD/FF) were distinguished. Their frequencies were 0.1835, 0.5823 and 0.2342, respectively. Different genotypes had significant association with area and pH45m value of loin muscle, while showing no significant association with the water-holding capacity and conductivity of loin muscle. The results also revealed that the genotypes had a significant correlation with diameter, area, circularity and the aspect ratio of muscle fibres. It was also presented that the genotypes significantly correlated with the percentage of intramuscular connective tissue.
Many beginning students find some aspects of genetics much more difficult to grasp than others. Not very surprisingly, this is especially true of the problem solving and calculations involved in Mendelian genetics, pedigree analysis, linkage and mapping, quantitative analysis, and population genetics. We have found that texts often lack the space to provide much feedback to students regarding problem sets. Even if the correct answer is given, a student who arrives at a wrong one may not know whether the incorrect answer resulted from a minor mathematical error or a more fundamental misunderstanding of the material. This primer of genetic analysis is designed to address some of these difficulties.
In order to help you build confidence in your grasp of the subject and in your ability to apply that knowledge, we start with an array of problems that test basic ideas. More complex problems then follow naturally. Most importantly, we have supplied all questions with detailed explanations of how to work them. You can therefore work at your own pace through the logical analysis. With this practice and some guidance on how to avoid common pitfalls, you will gain experience and confidence in your ability to solve problems in the major areas of genetics.
Each chapter begins with Study Hints, in which we suggest ways of organizing your approach to a topic or take you step-by-step through a problem-solving exercise.
Although Mendel did not know about the events that occur in a dividing cell, his laws of segregation and independent assortment are really descriptions of chromosome behavior during meiosis. Segregation simply refers to the fact that the two homologous chromosomes separate to opposite sides of the cell (that is, they segregate) after synapsis in the first meiotic division. Independent assortment reflects the fact that the orientation of one pair of homologous chromosomes at the equatorial plate in cell division is independent of the orientation of other pairs; that is, alignment of chromosomes occurs randomly relative to one another.
The secret to solving Mendelian genetics questions is to recognize that there is a pattern hidden within the superficial confusion of facts with which you are presented. The first important step is to have a clear understanding of mitosis and meiosis. Then you must have a thorough working knowledge of the terminology. Beginning students commonly confuse phenotype and genotype, or gene and allele. Genotype is the genetic makeup (such as Aa), whereas phenotype is the expression of the genotype interacting with its environment (such as brown versus black fur). Different genes code for totally different protein products (such as a pigment enzyme versus blood membrane protein), whereas alleles are the different forms that a specific gene can have (such as normal enzyme A versus the lower-activity form of the same enzyme a).
Aflatoxin M1 (AFM1) residues in milk are regulated in many parts of the world and can cost dairy farmers significantly due to lost milk sales. Additionally, due to the carcinogenicity of this compound contaminated milk can be a major public health concern. Thirty-four lactating dairy cows were utilised to investigate the relationship between somatic cell counts (SCC), milk yield and conversion of dietary aflatoxin B1 (AFB1) into milk AFM1 (carryover (CO)). The AFM1 in milk increased as soon as the first milking after animal ingestion with a pattern of increment up to the observed plateau (between 7th and 12th days of AFB1 ingestion). There was a significant (P < 0.01) effect of the milk yield whereas no effect could be attributed to the SCC levels or to the milk yield × SCC interaction. Similarly, the main effect of milk yield was also observed (P < 0.01) on the total amount of AFM1 excreted during the ingestion period. Although the plasma concentration of gamma-glutamyl transferase was significantly affected by aflatoxin administration, levels of this liver enzyme were within the normal range for lactating dairy cows. The current data suggest that milk yield is the major factor affecting the total excretion of AFM1 and that SCC as an indicator of mammary gland permeability was not related to an increase in AFM1 CO.
Errors in mitosis and meiosis can lead to aneuploid cells, that is, to cells that have more or fewer chromosomes than the normal diploid (the euploid, or literally “true multiple”) set of chromosomes. Because so many genes are involved in this change in the genetic makeup of a cell, most aneuploids die or are very abnormal. Among those that do survive, however, the addition of a chromosome is apparently more readily tolerated than is the loss of a chromosome.
A related type of genomic change is polyploidy, in which fusion of meiotic products, multiple fertilization, or defects in spindle formation result in extra complete sets of chromosomes (3n, 4n, and so forth). Although polyploidy can occur in either animals or plants, it is much more common in plants. Indeed it is an important evolutionary mechanism in plants that can yield new species. It is also a valuable tool of plant breeders who want to combine characteristics from separate but related species for agricultural purposes. Seedless polyploids are also economically useful.
It is useful to distinguish two types of polyploidy. Autopolyploidy (auto- means “self”) occurs when an inhibition of normal meiosis or other processes increases the number of chromosome sets within a single species. For example, species A (where 2n = AA) becomes an autotriploid (3n = AAA), autotetraploid (4n = AAAA), or higher multiple. Allopolyploidy (allo- means “different”), on the other hand, combines chromosome sets from different species.
Severe, chronic growth retardation of cattle early in life reduces growth potential, resulting in smaller animals at any given age. Capacity for long-term compensatory growth diminishes as the age of onset of nutritional restriction resulting in prolonged growth retardation declines. Hence, more extreme intrauterine growth retardation can result in slower growth throughout postnatal life. However, within the limits of beef production systems, neither severely restricted growth in utero nor from birth to weaning influences efficiency of nutrient utilisation later in life. Retail yield from cattle severely restricted in growth during pregnancy or from birth to weaning is reduced compared with cattle well grown early in life, when compared at the same age later in life. However, retail yield and carcass composition of low- and high-birth-weight calves are similar at the same carcass weight. At equivalent carcass weights, cattle grown slowly from birth to weaning have carcasses of similar or leaner composition than those grown rapidly. However, if high energy, concentrate feed is provided following severe growth restriction from birth to weaning, then at equivalent weights post-weaning the slowly-grown, small weaners may be fatter than their well-grown counterparts. Restricted prenatal and pre-weaning nutrition and growth do not adversely affect measures of beef quality. Similarly, bovine myofibre characteristics are little affected in the long term by growth in utero or from birth to weaning. Interactions were not evident between prenatal and pre-weaning growth for subsequent growth, efficiency, carcass, yield and beef-quality characteristics, within our pasture-based production systems. Furthermore, interactions between genotype and nutrition early in life, studied using offspring of Piedmontese and Wagyu sired cattle, were not evident for any growth, efficiency, carcass, yield and beef-quality parameters. We propose that within pasture-based production systems for beef cattle, the plasticity of the carcass tissues, particularly of muscle, allows animals that are growth-retarded early in life to attain normal composition at equivalent weights in the long term, albeit at older ages. However, the quality of nutrition during recovery from early life growth retardation may be important in determining the subsequent composition of young, light-weight cattle relative to their heavier counterparts. Finally, it should be emphasised that long-term consequences of more specific and/or acute environmental influences during specific stages of embryonic, foetal and neonatal calf development remain to be determined. This need for further research extends to consequences of nutrition and growth early in life for reproductive capacity.
Phenotypic information about several pig meat quality traits on 334 Large White × Meishan F2 pigs was collected. Effects of the association of the FokI variants in the seventh intron of the skeletal muscle glycogen synthase (GYS1) gene and the PstI variants in the ninth intron of the palmitoyl acyl-CoA oxidase 1 (ACOX1) gene on the meat quality traits were examined on all pigs. The FokI variants of the GYS1 gene showed significant effects on pH of m. semipinalis capitis (P < 0.05). Linkage analysis indicated that the peak of the quantitative trait loci (QTL) curve was located around this marker for pH, but it did not reach significance (P > 0.05). The results may be due to several reasons such as linkage disequilibrium to the causal mutations, the limited number of animals or balance of another QTL or marker with negative effects. Significant effects of PstI variants of ACOX1 gene were also found on meat colour value and meat marbling score of both m. longissimus dorsi and m. biceps femoris (P < 0.05). Dominant effects for the affected traits at those two loci were significant except for meat marbling score of m. biceps femoris (P < 0.05). The results of this study give us some evidence for the potential of those dominant markers used in the marker-assisted selection of crossbreeding of the Large White pig sire lines and Meishan-derived synthetic dam lines.
It is well known that any quantitative (energy and protein levels) and qualitative (nature of the diet, nutrient dynamic) changes in the feeding of animals affect metabolism. Energy expenditure and feed efficiency at the whole-body level, nutrient partitioning between and within tissues and organs and, ultimately, tissue and organ characteristics are the major regulated traits with consequences on the quality of the meat and milk produced. Recent progress in biology has brought to light important biological mechanisms which explain these observations: for instance, regulation by the nutrients of gene expression or of key metabolic enzyme activity, interaction and sometimes cross-regulation or competition between nutrients to provide free energy (ATP) to living cells, indirect action of nutrients through a complex hormonal action, and, particularly in herbivores, interactions between trans-fatty acids produced in the rumen and tissue metabolism. One of the main targets of this nutritional regulation is a modification of tissue insulin sensitivity and hence of insulin action. In addition, the nutritional control of mitochondrial activity (and hence of nutrient catabolism) is another major mechanism by which nutrients may affect body composition and tissue characteristics. These regulations are of great importance in the most metabolically active tissues (the digestive tract and the liver) and may have undesirable (i.e. diabetes and obesity in humans) or desirable consequences (such as the production of fatty liver by ducks and geese, and the production of fatty and hence tasty meat or milk with an adapted fatty acid profile).
To identify transposons that may be of use for mutagenesis we investigated the genetic molecular basis of a case of flower colour variegation in Linaria, a close relative of the model species Antirrhinum majus. We show that this variegation is attributable to an unstable mutant allele of the gene encoding dihydroflavonol-4-reductase, one of the enzymes required for anthocyanin biosynthesis. This allele carries an insertion of a transposon belonging to the CACTA family (Tl1, Transposon Linaria 1) which blocks its expression thus conferring an ivory flower colour phenotype. Tl1 is occasionally excised in dividing epidermal cells to produce clonal patches of red tissue on the ivory background, and in cells giving rise to gametes to generate reversion alleles conferring a fully coloured phenotype. This finding may open the way for targeted transposon-mutagenesis in Linaria, and hence for using this genus in comparative genetic studies.
Bread wheat (Triticum aestivum L.) exhibits very narrow genetic diversity and hence there is high relatedness among cultivated varieties. However, a population generated from an intervarietal cross, with the parents differing in a large number of traits, could lead to the generation of QTL maps which will be useful in practice. In this report a genetic linkage map of wheat is constructed using a cross between two Indian bread wheat varieties: Sonalika and Kalyansona. The linkage map consisted of 236 markers and spanned a distance of 3639 cM, with 1211·2 cM for the A genome, 1669·2 cM for the B genome, 192·4 cM for the D genome and 566·2 cM for unassigned groups. Linkage analysis defined 37 linkage groups of which 24 were assigned to 17 chromosomes. The genetic map was used to identify QTLs by composite internal mapping (CIM) for three metric traits, viz. culm length (CL), flag leaf length (FLL) and flag leaf breadth (FLB). Of 25 QTLs identified in this study, 15 have not been reported previously. Multitrait CIM (MCIM) analysis was carried out for traits that were significantly correlated such as FLB–FLL and CL–FLB–FLL. Detection of a large number of QTLs for the three traits analysed suggests that in parent cultivars that are not too diverse, the differences at genetic level detected as polymorphisms may be mostly associated with QTLs for the observed differences.
Phenotypic and genetic variation and covariation in developmental instability (DI) have been the subject of many debates. In this paper we develop and apply a statistical model in a Bayesian context to analyse different traits simultaneously in a multivariate model of DI. We apply the model to measurements of yellow spots on the front wing of the Speckled Wood butterfly (Pararge aegeria L.) in a full-sib breeding experiment. We estimated the posterior distribution of the broad-sense heritability of DI averaged across the five yellow spots, which had a median of 0·19 and a 95% credibility interval ranging between 0·04 and 0·64. Phenotypic and genetic correlations in DI could not be estimated accurately with the present sample size. Yellow spots 4 and 5 appeared to show some degree of developmental integration. The importance of this model and its possible extensions are discussed.
Knowledge of the genetic relatedness among individuals is essential in diverse research areas such as behavioural ecology, conservation biology, quantitative genetics and forensics. How to estimate relatedness accurately from genetic marker information has been explored recently by many methodological studies. In this investigation I propose a new likelihood method that uses the genotypes of a triad of individuals in estimating pairwise relatedness (r). The idea is to use a third individual as a control (reference) in estimating the r between two other individuals, thus reducing the chance of genes identical in state being mistakenly inferred as identical by descent. The new method allows for inbreeding and accounts for genotype errors in data. Analyses of both simulated and human microsatellite and SNP datasets show that the quality of r estimates (measured by the root mean squared error, RMSE) is generally improved substantially by the new triadic likelihood method (TL) over the dyadic likelihood method and five moment estimators. Simulations also show that genotyping errors/mutations, when ignored, result in underestimates of r for related dyads, and that incorporating a model of typing errors in the TL method improves r estimates for highly related dyads but impairs those for loosely related or unrelated dyads. The effects of inbreeding were also investigated through simulations. It is concluded that, because most dyads in a natural population are unrelated or only loosely related, the overall performance of the new triadic likelihood method is the best, offering r estimates with a RMSE that is substantially smaller than the five commonly used moment estimators and the dyadic likelihood method.
Osteochondrosis might reduce the performance of slaughter pigs, longevity of sows and animal welfare. The aim of the present work was to describe the prevalence in Swiss breeds and to analyse the genetic background of osteochondral lesions. Between January 2002 and December 2005, about 9500 station-tested pigs were examined for several exterior traits before slaughtering at the Swiss pig performance testing station using the Swiss linear description system with a scale from 1 to 7 per trait. The animals belonged to three breeds: Large White dam line, Swiss Landrace and Large White sire line. Additionally, a random sample of these pigs (n = 2622) was examined for osteochondral lesions at seven positions of the carcass after dissection. At first, the surface and shape of the femur, humerus, radius and ulna at the joints were evaluated by a trained person. Afterwards these bones were sawed and the state of the cartilage and the distal epiphyseal cartilage of the ulna was examined at the cutting surface. Osteochondral lesions were scored on a scale from 1 to 6. The prevalence of osteochondral lesions was low at head of humerus, condylus lateralis humeri, radius and ulna proximal and head of femur. Osteochondral lesions at condylus medialis humeri (CMH), distal epiphyseal cartilage of ulna (DEU) and condylus lateralis femoris (CMF) exhibited phenotypic and genetic variance. Their heritabilities ranged from 0.16 to 0.18 using linear mixed animal models. Therefore, it is possible to reduce the prevalence of osteochondral lesions by selection in principle. Exterior traits showed low heritabilities (0.10 to 0.26) but several favourable genetic correlations with osteochondral lesions at CMH, DEU and CMF with low to moderate magnitude. Genetic correlations between osteochondral lesions and production traits were low.