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Maturity-onset diabetes in the young (MODY) comprises monogenic phenotypes of young-onset, insulinopenic diabetes. All its forms are dominantly inherited. Why? Are the pancreatic β cells only harmed by heterozygous variants? We propose that recessive MODYs do exist but have escaped detection due to lack of family history suggestive of monogenic inheritance.

Bilateral convergent strabismus with exophthalmos (BCSE) is a malformation of the eyes and is recognized as a mild but progressive disorder that affects cattle in the first two years of life. This most likely inherited disorder is rarely described in cattle resembling autosomal dominantly inherited forms of human progressive external ophthalmoplegia (PEO). In German Braunvieh cattle, two linked genome regions were found that could be responsible for the development and/or progression of BCSE. The goal of this study was to phenotypically characterize BCSE in Holstein cattle from Germany and Switzerland as well as to identify associated genome regions by GWAS. The clinicopathological phenotype of 52 BCSE-affected Holstein cattle was in accordance with the phenotype described in German Braunvieh cattle, but in addition, signs of degeneration and cellular infiltration in the eye muscles were found. By using imputed sequence level genotype data, three genome-wide significant GWAS hits were revealed on different chromosomes that were not detected by initial GWAS based on high density SNP array data highlighting the usefulness of this approach for mapping studies. The associated genome regions include the ABCC4 gene as well as markers adjacent to the NCOR2 and DNAJC3 genes all illustrating possible functional candidate genes. Our results challenge a monogenic mode of inheritance and indicate a more complex inheritance of BCSE in Holstein cattle. Furthermore, in comparison to previous results from German Braunvieh cattle, it illustrates an obvious genetic heterogeneity causing BSCE in cattle. Subsequent whole genome sequencing (WGS)-based analyses might elucidate pathogenic variants in the future.

The term common variable immunodeficiencies (CVIDs) is applied to a heterogeneous group of primary immunodeficiencies with hypogammaglobulinemia and defective B cell maturation or specific antibody formation. This diagnosis has evolved since first coined in 1971, based on proposed and subsequently revised clinical and immunological criteria. The genetic base of this condition is poorly defined, and only 15–30% of cases seem to be in relation with clear monogenic inheritance. Clinically, CVID can present with infections only or with other disease-related complications. Although it is accepted that CVID could arise as consequence of a B cell intrinsic defect, a certain component of T cell deficiency has been largely appreciated. Therefore, several refinements of the CVID definition and criteria have been proposed trying to exclude from this diagnosis late-onset combined immunodeficiencies (LOCID) that require proper diagnostic and clinical management approaches. This chapter tries to summarize the evolving concepts around the LOCID vs. CVID dilemma and the current perspective.

Background and aims Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Previous data indicated that the heterozygous form occurred in 1:250 people. Based on these reports, around 36,000–40,000 people are estimated to have FH in Hungary, however, there are no exact data about the frequency of the disease in our country. Therefore, we initiated a cooperation with a clinical site partner company that provides modern data mining methods, on the basis of medical and statistical records, and we applied them to two major hospitals in the Northern Great Plain region of Hungary to find patients with a possible diagnosis of FH. Methods Medical records of 1,342,124 patients were included in our study. From the mined data, we calculated Dutch Lipid Clinic Network (DLCN) scores for each patient and grouped them according to the criteria to assess the likelihood of the diagnosis of FH. We also calculated the mean lipid levels before the diagnosis and treatment. Results We identified 225 patients with a DLCN score of 6–8 (mean total cholesterol: 9.38 ± 3.0 mmol/L, mean LDL-C: 7.61 ± 2.4 mmol/L), and 11,706 patients with a DLCN score of 3–5 (mean total cholesterol: 7.34 ± 1.2 mmol/L, mean LDL-C: 5.26 ± 0.8 mmol/L). Conclusions The analysis of more regional and country-wide data and more frequent measurements of total cholesterol and LDL-C levels would increase the number of FH cases discovered. Data mining seems to be ideal for filtering and screening of FH in Hungary.

The study of Human Genetics in schools is quite recent and the use of hereditary human characters in the teaching of inheritance patterns has been seen as a way of introducing the daily in the learning processes, approaching the formal and scientific content of the knowledge brought by the student, in order to make the school content interesting and meaningful. With the purpose of evaluating the use of human characters as a way to contextualize the teaching of Mendelian heritage patterns in High School, four strategic points were outlined: 1. How did the textbooks present the inherited human characters? 2. How do teachers see the use of human characters inherited in genetics teaching? 3. How do these characters appear in terms of frequency and mode of inheritance? 4. How can human characters be used in a way that promotes learning without compromising the scientific character of teaching? An evaluation of the eight Biology books made available to teachers and students of the public network by the 2012 National High School Textbook Program (PNLEM) allowed us to identify the frequency of use of human characters and to raise related misunderstandings that were categorized in conceptual errors, deviations from description, simplifications and appropriate description. Interviews allowed the evaluation of the teachers' conceptions regarding the use of human characters in teaching genetics, their advantages, their counterparts and examples most used. The most cited characters in textbooks and more easily observed in individuals were entered into a form for frequency investigation using software, made available online. The sample consisted of 3,150 individuals (high school and university students), who accessed and answered the questionnaire. A learning strategy that uses this form of research and the analysis of software graphs was constructed in a collaborative way with the Biology teachers of the public network, from a moment of reflection and training provided by this work. The learning strategy was applied in 2016 by teachers who participated in the training of all students in the introduction of genetic content, considering that it allows the construction of concepts related to inheritance patterns, using examples of human characters and minimizing the inconsistencies found. A validated assessment form that uses the Likert scale allowed students to check their engagement with learning strategies in two classes of high school seniors. In this way, Crombach's alpha (α = 0.858) was identified, demonstrating a homogeneity of the group with respect to the validity of the developed proposal. O estudo de Genética Humana nas escolas é bastante recente, e a utilização dos caracteres humanos hereditários no ensino de padrões de herança tem sido vista como uma forma de introduzir o cotidiano nos processos de aprendizagem, aproximando o conteúdo formal e científico do conhecimento trazido pelo aluno, de modo a tornar o conteúdo escolar interessante e significativo. Com o propósito de avaliar a utilização de caracteres humanos como forma de contextualizar o ensino dos padrões de herança mendeliana no Ensino Médio, quatro pontos estratégicos foram delineados: 1. Como os livros didáticos apresentam os caracteres humanos herdados? 2. Como os professores veem a utilização dos caracteres humanos herdados no ensino de genética? 3. Como esses caracteres se apresentam em termos de frequência e de modo de herança? 4. De que forma se pode utilizar os caracteres humanos, de modo a favorecer a aprendizagem, sem comprometer o caráter científico do ensino? Uma avaliação dos oito livros de Biologia disponibilizados aos professores e alunos da rede pública pelo Programa Nacional do Livro Didático para o Ensino Médio (PNLEM), de 2012, permitiu identificar a frequência de utilização dos caracteres humanos e levantar os equívocos relacionados, que foram categorizados em erros conceituais, desvios em relação à descrição, simplificações e descrição apropriada. Entrevistas semiestruturadas permitiram a avaliação das concepções dos professores quanto à utilização dos caracteres humanos no ensino da genética, suas vantagens, seus contrapontos e exemplos mais utilizados. Os caracteres mais citados nos livros didáticos e mais facilmente observáveis nos indivíduos foram inseridos em um formulário para investigação de frequência que utilizou um software, disponibilizado de modo on-line. A amostra contou com 3.150 indivíduos (alunos dos Ensinos Médio e Superior), que acessaram e responderam ao questionário. Uma estratégia de aprendizagem que utiliza essa forma de investigação e a análise de gráficos do software foi construída de forma colaborativa com os professores de Biologia da rede pública, a partir de um momento de reflexão e capacitação proporcionado por este trabalho. A estratégia de aprendizagem foi aplicada em 2016 pelos professores que participaram da capacitação a todos os alunos na introdução do conteúdo de genética, considerando que possibilita a construção de conceitos relativos aos padrões de herança, utilizando exemplos de caracteres humanos e minimizando as inconsistências constatadas. Um formulário de avaliação validado que utiliza a escala de Likert permitiu verificar o engajamento dos alunos em relação às estratégias de aprendizagem em duas turmas de alunos de terceiro ano. Dessa forma, identificou o alfa de Crombach (α = 0,858), demonstrando uma homogeneidade do grupo com relação à validade da proposta desenvolvida.

This study investigated familial relationships among Deutsch Drahthaar dogs with craniomandibular osteopathy and examined the most likely mode of inheritance. Sixteen Deutsch Drahthaar dogs with craniomandibular osteopathy were diagnosed using clinical findings, radiography or computed tomography. All 16 dogs with craniomandibular osteopathy had one common ancestor. Complex segregation analyses rejected models explaining the segregation of craniomandibular osteopathy through random environmental variation, monogenic inheritance or an additive sex effect. Polygenic and mixed major gene models sufficiently explained the segregation of craniomandibular osteopathy in the pedigree analysis and offered the most likely hypotheses. The SLC37A2:c.1332C>T variant was not found in a sample of Deutsch Drahthaar dogs with craniomandibular osteopathy, nor in healthy controls. Craniomandibular osteopathy is an inherited condition in Deutsch Drahthaar dogs and the inheritance seems to be more complex than a simple Mendelian model.

The objectives of this study were to determine genetics of Al tolerance and whether the Al tolerance observed is governed by the same gene. The lines ‘L-7903’ and ‘L-4602’ have been developed through breeding programme as Al-tolerant lines. These lines showed maximum root regrowth and minimum accumulation of Al and callose as compared to sensitive genotypes (‘BM-4’ and ‘L-4147’). Al tolerance in the parents, F1, F2 and backcross generations was estimated using the regrowth of the primary root after staining and scoring of fluorescent signals. The F1 hybrids responded similarly to the tolerant parents, indicating dominance of Al tolerance over sensitivity. The segregation ratios obtained for Al tolerance and sensitivity in the F2 and backcross generations were 3 : 1 and 1 : 1, respectively. Test of allelism confirmed the same gene was conferring Al tolerance in both genotypes (‘L-7903’ and ‘L-4602’) as the F1 was also tolerant and no segregation of tolerant : sensitive was recorded. These results indicated that Al tolerance is a monogenic dominant trait that can be easily transferred to agronomic bases through backcross breeding technique.

All clinicians need to be aware of EDS and its variable presentations that, in some types, can be life threatening. Recognition of EDS can allow accurate diagnosis by genetic testing, genetic counselling and specific, appropriate management and follow-up. Key points The different types of Ehlers–Danlos syndrome (EDS) are separate conditions with monogenic inheritance Accurate molecular genetic testing is available for many types of EDS Vascular EDS is potentially life threatening with a risk of sudden death There is a UK National Specialist Diagnostic Service for complex EDS EDS is a group of conditions with multisystem involvement and it can present to all specialties

Bottle gourd [Lagenaria siceraria (Molina) Standl.] is one of the most interesting species in the plant kingdom, due to the diversity of fruit shapes, sizes and ways of use. Warty genotypes are rare compared to non warty genotypes. Considering unusual external appearance of warty fruits, we focused our research on the investigation of its inheritance patterns. By crossing different bottle gourd phenotypes, we studied the mode of inheritance and identified and verified genes responsible for the fruit skin color and warty phenotype segregation. Two parental lines, LAG 70 (with warty fruit of light green color) and LAG 71 (smooth fruit, variegated), F1, F2 and backcrosses populations along with both parents were evaluated. Genetic analysis indicated that warty fruit type is a result of monogenic inheritance, whereby the warty fruit type is dominant (Wt) trait over to the non-warty fruit type (wt). The mode of inheritance of fruit color was controlled by recessive epistasis, with a ratio of 9 variegated (A-, B-), 3 dark green colored (aaB-) and 4 light green colored (aabb) fruits in the F2 generation.

In the present study, generation mean analysis and chi-square test were undertaken to estimate the nature and magnitude of gene action for yield and its component traits; and inheritance pattern of seed colour and lustre in two crosses of mungbean viz Sona/ DMS 03-17-2 and Sona/ DMS 01-34-2. Scaling and joint scaling tests revealed the presence of one or more kinds of epistatic effects for almost all the agro-morphological traits. The selection of elite lines from delayed generations and subsequent inter mating might be useful approach to recover/ develop the high yielding mungbean lines. The elite lines recovered from crosses Sona/ DMS 03-17-2 and Sona/ DMS 01-34-2 might be superior in terms of early maturity with more number of branches, pods high seed index, biomass and yield. Likewise, crosses i.e. Sona/ DMS 03-17-2 for average intermodal length; Sona/ DMS 01-34-2 for NSP; may give opportunity to isolate transgressive segregants in advanced generations. There was also a possibility to recover the yellow and shiny seeded mungbean lines due to its monogenic inheritance of seed coat colour and lusture.

Using ethylmethansulphonate the chemical mutagenesis of the pea laboratory line SGE was performed. During analysis of 425 families (2069 plants) of Мsub2/sub progeny 45 putative mutants were selected, among them 30 mutants forming ineffective nodules (Fixsup–/sup phenotype), 13 mutantsunable to form nodules (Nodsup–/sup phenotype), and 2 mutants forming a few nodules (Nodsup+/–/sup phenotype). For 1 Nodsup–/sup and 5 Fixsup–/sup mutants monogenic inheritance and recessive phenotype manifestation were demonstrated. For Fixsup– /supmutant SGEFixsup–/sup–9 an additional mutation leading to Nodsup+/–/sup phenotype was shown. Complementation analysis showed that the mutant phenotype of the SGEFixspan style="font-size:11px"sup-/sup - /span5 line is caused by a mutation in the sym33 gene, of theSGEFixsup–/sup–6 linein the sym40 gene, of the SGEFixsup–/sup–7 line in the sym27 gene, and of the SGEFixsup–/sup–8 linein the sym25 gene.

The hypothesis of a monogenic inheritance of dark longitudinal bands on the shell in the gastropods Littorina obtusata and L. saxatilis was checked. One gene having two alleles proved to be responsible for the shell banding pattern in both of the species. The presence of bands was a dominant character in either case.

Computer-aided image processing was used to study the morphology of leaf hairiness in the wheat cultivars Saratovskaya 29 and Golubka, as well as the introgressed line 102/00i of the cultivar Rodina carrying the gene for leaf hairiness introgressed from Aegilops speltoides. Morphological differences in leaf hairiness were detected and described in detail. The genetic control of hairiness was studied in two cultivars (Golubka and Saratovskaya 29) with similar hairiness patterns. Crossing these cultivars with the cultivar Rodina showed a monogenic inheritance in the cultivar Golubka and a digenic inheritance in the cultivar Saratovskaya 29, which has a denser hairiness. In the line 102/00i and the cultivar Golubka, the number of trichomes was positively correlated with their mean length. The cultivar Golubka was used as an example to study the effect of environmental conditions on the formation of hairiness. Plants of this cultivar were found to form more but shorter trichomes under field conditions.

WOS: 000269728800004, Three commercial varieties susceptible to powdery mildew and five high-yielding genotypes with resistance to powder mildew from the CIMMYT were used in this study to estimate the general combining ability of parents, to detect gene actions of resistance against powdery mildew, and identify the most suitable genotype for transferring resistance genes to the commercial varieties. In conclusion, monogenic inheritance was detected in the F(2) generation in crosses of parent 48 with two commercial varieties.. Atilla-12 and Basribey. The inheritance of parent 72 was digenic in crosses with the same commercial varieties. Parent 48 can be recommended as a parent for powdery mildew resistance and improvement of varieties towards higher spike length, spikelet and kernel numbers per spike and plant height. parent 72 may also be used for powdery mildew, resistance to develop varieties with greater plant height.

The genetic control of nine enzyme systems has been analyzed in the preserved juniper species (Juniperus excelsa Bieb.) from a natural population of the Mountain Crimea. Isozymes were extracted from endosperms of the haploid seeds to be studied by electrophoresis. As a result 16 loci have been identified, of which 14 loci were polymorphic (Gdh, Got-1, Mdh-1, Mdh-2, Mdh-3, Acp-1, Acp-2, Acp-3, Lap-1, Dia-1, Fdh, Sod-1, Sod-2, and Sod-3). Analysis of allele segregation in heterozygous trees confirmed monogenic inheritance of these alleles.

Monogenic inheritance and linkage were established on the basis of F1 observations and analysis of 13,498 plants in 42 crosses for leaf colour, 7046 plants in 27 crosses for plant pubescence, 1926 plants in 8 crosses for number of leaflets per leaf, and 3182 plants in 12 crosses for plant height under field conditions. Normal green colour of foliage was found to be dominant over light green, pubescent plant over glabrous, high number of leaflets per leaf over low number of leaflets, and tall plant over dwarf. Linkage was estimated from joint segregation analysis, taking two characters at a time in all possible combinations as significant χ2 values were recorded for these genes. Gene symbols Gl, Pub, Ph, and Hl are proposed for these four traits, respectively. The genes are arranged in the order of Ph-Gl-Pub-Hl with the map distances of 21.1, 28.9, and 17.5 cM between them. This short sequence of four linked genes spanning over 37.2 cM has been called Linkage Group 2 of lentil.

‘Porotan’ is a Japanese chestnut cultivar (Castanea crenata Sieb. et Zucc.) that was selected from offspring of the cross 550-40 × ‘Tanzawa’ and released in 2006. Its nut is distinguished by a pellicle that is easy to peel after roasting; previously, all Japanese chestnut cultivars were thought to have a pellicle that was difficult to peel. Both 550-40 and ‘Tanzawa’ are Japanese chestnuts, and 550-40 is a selection descended from ‘Tanzawa’. Both 550-40 and ‘Tanzawa’ have a pellicle that is difficult to peel. Among 59 offspring of a cross of 550-40 × ‘Tanzawa’, 12 had an easy-peeling pellicle and 47 had a difficult-peeling pellicle; this ratio is not significantly different from the 1:3 expected ratio for monogenic inheritance based on a chi-square test at P = 0.05. A half-diallel cross without selfings was made among ‘Porotan’, ‘Tanzawa’, and ‘Tsukuba’. All the offspring from ‘Tanzawa’ × ‘Tsukuba’ and from ‘Tsukuba’ × ‘Porotan’ had a difficult-peeling pellicle; in contrast, 39 offspring from ‘Tanzawa’ × ‘Porotan’ segregated in a ratio of 19 difficult-peeling pellicle to 20 easy-peeling pellicle, which is not significantly different from the expected 1:1 ratio for monogenic segregation based on a chi-square test at P = 0.05. These results suggest that the easy-peeling pellicle trait of ‘Porotan’ is controlled by a major recessive gene at a single locus. We designated the pellicle peelability locus as P/p. According to this model, the ‘Tsukuba’ genotype is homozygous-dominant (PP), the ‘Tanzawa’ genotype is heterozygous (Pp), and the ‘Porotan’ genotype is homozygous-recessive (pp).

Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosis is now possible, simplifying previously complex investigations, it is expected that identification of the genes implicated in familial forms of epilepsies will lead to a better understanding of the underlying pathophysiological mechanisms of these disorders and to the development of experimental models and new therapeutic strategies, in this article, we review the clinical and genetic data concerning most of the inherited human epilepsies.

With 1 figure and 1 table Abstract Chickpea is an important food legume in many developing countries. Seed characteristics, especially size, shape and colour, define the two main types (‘desi’ and ‘kabuli’) and also influence the mode of consumption and economic value. We observed two distinct seed shapes in the desi breeding line 9113-13N-2, ‘rounded’ and ‘angular’, and sought to demonstrate a genetic basis for this difference. The mode of inheritance was studied in F1, F2 and F3 generations of crosses between rounded and angular single plant progeny from 9113-13N-2 and in the F2 generation of another cross between rounded and angular parents. Rounded shape was dominant to angular shape in the F1 generation, and a 3 rounded : 1 angular ratio was observed in the F2 and F3 generations. These results indicated a monogenic inheritance for seed shape in desi chickpeas. Visual differences in shape were confirmed by sphericity measurements: sphericity values for rounded seeds were significantly greater than for angular seeds. We propose the symbols Rd and rd for alleles conferring rounded and angular shape, respectively.

Models of the intensity of selection for resistance resulting from the application of heterogeneous doses of pesticide are developed. Dose heterogeneity is assumed to arise from two factors. First, a proportion of the population completely escapes treatment. Second, the rest of the population receives a distribution of doses that can be described by a probability distribution that is approximately logistic on a logarithmic scale. Various assumptions about the biology of the target population are explored, including both sexual and asexual reproduction of haploid and diploid organisms with either polygenic or monogenic inheritance of resistance. There are two major conclusions. (i) The presence of escape produces a maximum in the graph of selection intensity against dose or control; below the dose corresponding to the maximum, selection is reduced if dose is reduced, but above the maximum, selection is reduced if dose is increased. Informal arguments suggest it is unlikely that field doses would often be above the maximum dose, so selection would usually be decreased by decreasing dose. (ii) For the same control, selection for resistance is reduced by greater heterogeneity of pesticide dose, even though larger average doses may be needed.

The desi and kabuli chickpeas are characterized, among other things, by their seed coats being thicker in the desi than in the kabuli type. The inheritance of seed coat thickness, and its relation to flower colour and seed size, was studied. Seed coat thickness exhibits monogenic inheritance, the thin kabuli seed coat being the recessive character. Linkage was found between seed coat thickness and flower colour, the recombinant fraction being 0.19. No relationship was found between seed coat thickness and seed size. The role of these characters in the evolution of the chickpea is discussed.

The objectives of this study were to determine if genes for resistance to soybean cyst nematode (SCN) in soybean PI 437654 were identical or different from the genes in Peking, and PI 90763. The F2 plants and F3 families were studied from crosses between PI 437654, Peking, and PI 90763. The cross PI 437654 × susceptible Essex was included to determine inheritance of resistance to SCN. For Race 3, PI 437654 was found to have genes in common with Peking and PI 90763. The segregation in PI 437654 × Essex indicated the presence of one dominant and two recessive genes. For Race 5, PI 437654 indicated the presence of similar genes as those in PI 90763 and Peking whereas, PI 437654 × Essex indicated the action of the segregation ratios of two dominant and two recessive genes. For Race 14, the data from the cross PI 437654 × PI 90763 indicated monogenic inheritance with resistance being dominant; whereas PI 437654 × Peking showed a recessive gene controlling resistance. The segregation in PI 437654(R) × Essex(S) suggested one dominant and two recessive genes for Race 14 reaction.

O formato dos frutos do tomateiro é resultado da ação de diversos loci gênicos que podem atuar de diversas formas: isoladamente, com efeitos pleiotrópicos ou interagindo entre si ou com genes responsáveis pelo peso do fruto. Em função disto, o estudo da herança desta característica, importante para o melhoramento da espécie, torna-se complexa e de difícil execução. Este trabalho foi desenvolvido no Setor de Olericultura e Experimentação da Universidade José do Rosário Vellano (UNIFENAS), de Julho/2003 a Março/2005 com o objetivo de determinar a herança da forma do fruto em tomateiro do grupo cereja. Foram utilizados dois genótipos selvagens e contrastantes quanto à forma do fruto: fruto comprido (FC) e fruto redondo (FR). Cruzamentos recíprocos e retrocruzamentos foram efetuados sendo a forma do fruto, avaliada nas gerações oriundas desses cruzamentos. Todas as plantas da geração F1 produziram frutos redondos. Em F2, 111 plantas produziram frutos redondos e 47 plantas produziram frutos compridos. No retrocruzamento (F1 x FC) 47 plantas produziram frutos redondos e 42 plantas produziram frutos compridos. Estes resultados, analisados pelo teste de x2 confirmaram segregação mendeliana 3:1 e 1:1 respectivamente. Concluiuse que o formato dos frutos estudados tem herança monogênica. O alelo que condiciona a forma redonda do fruto tem dominância completa sobre o alelo que confere a forma alongada com possível atuação do locus sun. The tomato fruit shape is a result of action of various gene loci that can act in several ways: alone, with pleiotropic effects or interacting with each other or with genes responsible for the fruit weight. According to this, the study of the inheritance of this characteristic, very important for the improvement of the species, is complex and difficult to implement. This work was carried out at the Horticultural and Experimentation Section of José do Rosário Vellano University, during the period of July 2003 through March, 2005 with the objective to determine the fruit shape of the cherry tomato plant. Two wild genotype contrasting tomato plants were utilised with the fruit shape: long fruit shape (LF) and round fruit shape (RF). Reciprocal crosses and backcross were realised and the fruit shape was evaluated in the generations origininated from these crosses. All plants of the F1 generation produced round shape fruit. In the F2 generation, 111 plants produced round fruit shape and 47 plants produced long fruit shape. On the backcross generation (F1 x LF) 47 plants produced round fruit shape and 42 plants produced long fruit shape. These results when analysed by chi square, confirmed Mendelian segregation 3:1 and 1:1 respectively. It was concluded that the studied fruit shape has monogenic inheritance. The allele that determines fruit round shape has complete dominance over the allele that determines elongated shape fruit with possible action of the sun locus.

A field experiment was conducted with five sesame genotypes, two branched, TMV 4 and TMV 5, and three monostemed / shybranched KS 990837, KS 990813 KS 9908513 and six cross combinations of branched x monostemed to develop F1, F2, BC1 and BC2 populations. Six generations P1, P2, F1, F2, BC1 and BC2 were raised in a non replicated trial to estimate the gene effects for branching and some other yield attributing characteristics. The additive, dominance and duplicate dominance gene effects were found to be important for number of branches per plant. Additive component was significantly positive for days to first flowering, days to maturity and plant height in TMV 4 x KS 99037; plant height and number of branches in TMV 5 x KS 990813; days to first flowering and days to maturity in the cross TMV 5 x KS 99153; indicating the presence of additive gene action. Additiive x additive fixable gene interaction was also reported in different crosses. In most of the crosses, duplicate epistasis was found to be predominant when compared to complementary epistasis. Thus gene effects for a given characteristics varied among crosses. Inheritance study using five crosses viz., TMV 4 x KS 99037, TMV 4 x KS 990813, TMV 5 x KS 99037, TMV 5 x KS990813 and TMV 5 x KS99153, showed a monogenic inheritance of 3:1 with simple dominance recessive relationship for branching and monostem / shy branching characteristic, respectively. The cross TMV4 x KS 99153 which showed 15:1 ratio, fitted to the expected ratio of 3:1 for branching : shy branching respectively of the test cross progenies. This cross also showed duplicate epistasis for the number of branches per plant in generation mean analysis. Tropical Agricultural Research and Extension 16(3): 2013: page 93-102

The Sumatra barb Barbus tetrazona exhibits two trunk banding patterns: a four-banded and a five-banded pattern characteristic of B. t. tetrazona and B. t. partipentazona, respectively. Segregation patterns in the progenies from 11 different matings suggest monogenic inheritance of trunk banding in this species.

5 pages, 1 table., Bitter flavour of the almond kernel is due to the cyanoglucoside amygdalin and has been the first characteristic considered in breeding programmes. In such programmes, the seedlings from sweet-kernelled parents were used to study the transmission of bitterness, which was shown to be a monogenic characteristic, the sweet flavour being dominant. The aim of this work was to investigate more deeply the inheritance of bitterness in almond, by studying for 2 consecutive years the bitter flavour in 169 seedlings of 9 families (obtained exclusively for this purpose), one or both parents being bitter-kernelled. With the exception of the presence of slightly bitter seedlings, the results support the hypothesis of monogenic inheritance of this trait, the bitter flavour being recessive, although other factors could have a slight influence on the expression of this characteristic. Heterozygous individuals showed sweet, slightly bitter or year-changeable (sweet-slightly bitter) phenotypes. Our results demonstrated the possibility of using as parents bitter-kernelled individuals with some outstanding characteristic desirable for transmission to the progeny, always in combination with a homozygous sweet progenitor., This study was financed by projects AGF98-0211-C03-02 and AGL2001-1054-C03-01 of the Spanish Ministry of Science and Technology.

The variability and mode of inheritance of young shoot tip, leaf, grape and berry morphological characteristics were investigated in F1 generation obtained by crossing of Drenak crveni and Afuz-ali. Based on seedlings description, considering investigated characteristics, grouping was done by applying O.I.V. method. The conclusions about inheritance of characteristics were obtained based on results of Hi2 test. The consider able variability was expressed in hybrid population. For properties of leaf characteristics (largeness, shape, dividity, and incisions), exception from typical monogenic ratio was determined. The monohybrid inheritance was determined in density of leaf hairs and downs. The monohybrid mode of inheritance was not confirmed in grape characteristics (largeness, compactness and stem length) and berry characteristics (largeness, shape and taste), while skin color is monogenic property. Praćene su varijabilnost i način nasleđivanja morfoloških osobina vrha mladog lastara, lista, grozda i bobice u F1 generaciji nastaloj ukrštanjem sorti Drenak crveni i Afuz-ali. Na osnovu opisa sejanaca izvršeno njihovo grupisanje po posmatranim obeležjima primenom propisane metode O.I.V-a. Zaključci o načinu nasleđivanja posmatranih osobina doneti su na osnovu rezultata Hi2 testa. U hibridnom potomstvu ispoljena je znatna varijabilnost svih proučavanih osobina. Za osobine razvijenog lista (veličina, oblik, izdeljenost, forma ureza) utvrđeno je od stupanje od odnosa razdvajanja karakterističnog za monogensko nasleđivanje. Za osobine lista kao što su gustina dugih i kratkih malja utvrđeno je da se nasleđuju monogenski. Od osobina grozda i bobice monogenski način nasleđivanja nije potvrđen kod veličine grozda, zbijenosti bobica, dužine peteljke, veličine, oblika i ukusa bobica, dok se boja pokožice nasleđuje monogenski.

To revive the appreciation of the importance of genetic studies for the understanding of neurologic diseases inherited in a monogenic fashion. After a description of the basic patterns of monogenic inheritance, the importance of linkage studies for the mapping of a disease gene is mentioned. Furthermore, the term linkage disequilibrium is introduced. Finally, several procedures used in current linkage analyses are briefly mentioned, with the aim of identifying the disease gene. The importance of genetic studies of disease families with many members, preferably from isolated surroundings to favor homogeneity, is stressed. However, such analyses can be performed only as a consequence of a close cooperation between clinicians and research scientists.

The earliest descriptions of a genetic basis for the nephrotic syndrome concerned clinical phenotypes of relatively limited variability apparently as a result of classical Mendelian disorders with monogenic inheritance. Paradigmatic was the description by Tryggvason and his colleagues[1][1] of the

The recurrence of interruption of aortic arch (IAA) in siblings is rare. According to previous reports concerning siblings with IAA, all cases were IAA type B according to the classification proposed by Celoria and Patton. In this report we present the first cases of brothers with IAA type A. The type of IAA was confirmed by autopsy findings in the elder brother and by operative findings in the younger brother. The etiology of IAA was unclear. Monogenic inheritance was thought unlikely because congenital heart disease was not recognized in other members of the family. It would seem prudent to separate recurrence risks for IAA type A from IAA type B when genetic counselling is provided, but it must be borne in mind that the recurrence of IAA type A can occur among siblings.

"Pinch-induced" catalepsy (excessive freezing) was studied in mice of nine inbred strains. The CBA/Icg strain had the highest predisposition to catalepsy, with 56% males and 73% females exhibiting 120-s immobility after four tests. A Mendelian analysis of predisposition to catalepsy was performed on CBA/Icg and AKR/J mice contrasting in this trait. Reciprocal F1 hybrids did not display freezing after 10 tests. The number of cataleptic and noncataleptic animals among the F2's and in the families of the CBA x F2 backcrosses agreed with the hypothesis that the pronounced predisposition to catalepsy in the CBA/Icg mice was determined by a single autosomal locus in homozygous recessive condition.

There is some evidence to support the hypothesis that crown form of Scots pine ( L.) can be inherited either mono- or polygenically. In Finland, a narrow, horizontal whorl-layer structure is striking in about one half of the offspring of a genotype E 1101, âKanerva pineâ. The offspring are characterized by a narrow crown, short and thin branches at an angle of 90° to the stem, minimal tapering and by numerous long, lateral shoots, long needles and the common occurrence of three-needled fascicles among the dwarf shoots. These features are connected to a high growth rate, a high harvest index and to tortuosity of the stem. It is suggested that this complex of characters is determined by a single dominant gene.Pinus sylvestrisThe PDF includes an abstract in Finnish.