Recessive alleles
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In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.
24p viellison 28-03-2024 3 2 Download
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Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly, hepatomegaly, pallor, fatigue, iron overload, shortness of breath, hyperbilirubinemia, and gallstones might also prevail.
7p vigojek 02-02-2024 3 1 Download
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The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny.
9p vinarcissa 21-03-2023 3 1 Download
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Potato virus Y (PVY) is a major pathogen of potatoes with major impact on global agricultural production. Resistance to PVY can be achieved by engineering potatoes to express a recessive, resistant allele of eukaryotic translation initiation factor eIF4E, a host dependency factor essential to PVY replication.
16p vijeeni2711 24-07-2021 10 0 Download
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Consanguinity is an important risk factor for autosomal recessive (AR) disorders. Extended genomic regions identical by descent (IBD) in the offspring of consanguineous parents give rise to recessive disorders with identical (homozygous) pathogenic variants in both alleles.
5p vikentucky2711 24-11-2020 7 1 Download
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Compound Heterozygosity (CH) in classical genetics is the presence of two different recessive mutations at a particular gene locus. A relaxed form of CH alleles may account for an essential proportion of the missing heritability, i.e. heritability of phenotypes so far not accounted for by single genetic variants.
11p vioklahoma2711 19-11-2020 9 1 Download
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Studies on the genetic basis for resistance to jassid (Amrasca biguttula biguttula) was done in F2 segregating generation of one promising cross of interspecific cotton (Gossypium hirsutum L. X Gossypium barbadense L.) in the year 2015-16. The cross FQT-37 X SB-YF-425 segregated in the ratio of 13:3 for susceptibility and resistant. In the case of resistant type, all the plants were in grade II, implying moderate resistance. This gene action is called as inhibitory gene action.
4p angicungduoc6 20-07-2020 10 1 Download
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Hayman diallel analysis was performed excluding reciprocal in Indian mustard, the experimental material consisted of morphological diverse but genetically homozygous genotypes/varieties and their 45 direct crosses i.e., the F1 populations. The traits days to flowering, days to maturity, plant height, number of siliquae per plant, 1000-seed weight, harvest index, and linolenic acid explored additive type of gene effects.
11p nguaconbaynhay6 24-06-2020 11 1 Download
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Sharka is caused by Plum pox virus (PPV) in stone fruit trees. In orchards, the virus is transmitted by aphids and by grafting. In Arabidopsis, PPV is transferred by mechanical inoculation, by biolistics and by agroinoculation with infectious cDNA clones.
14p vihashirama2711 21-05-2020 9 1 Download
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Understanding the molecular mechanisms of flowering and maturity is important for improving the adaptability and yield of seed crops in different environments. In soybean, a facultative short-day plant, genetic variation at four maturity genes, E1 to E4, plays an important role in adaptation to environments with different photoperiods.
15p vihashirama2711 21-05-2020 5 0 Download
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An investigation was carried out with ten diverse genotypes of Sweet pepper (Capsicum annuum L.) and forty five F1 crosses generated from them through 10 x 10 diallel mating design. Through Vr-Wr graphs, it was found that moderate to high amount of diversity was present in the genotypes with respect to the quality traits under study as depicted by the positions of parental arrays in the Wr-Vr graphs. The regression line intersecting the Wr axis below the origin for most of the traits indicated over dominance.
4p nguathienthan2 26-12-2019 24 0 Download
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Bovine Leukocyte Adhesion Deficiency (BLAD), Bovine Citrullinaemia (BC), and Complex Vertebral Malformation (CVM) are the common autosomal recessive disorders in cattle affecting dairy industry. The present study was designed to standardize allelespecific PCR based genotyping method for examining the occurrence of these disorders in Indian cattle population. A total of 327 indigenous (Bos indicus), exotic (HF) cattle breeds and HF crossbreds (Bos taurus × Bos indicus) from various parts of India were screened.
9p nguathienthan2 19-12-2019 31 0 Download
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The estimates of components of genetic variation in okra revealed that additive component ( D ˆ ) was significant for all traits i.e. days to first flowering, days to first pod picking, plant height, number of nodes, internodal length, pod length, pod girth, avg. pod weight, number of pods per plant, pod yield per plant (g), number of seeds per pod, 100 seed weight (g), seed yield per plant (g) and pod yield (t/ha).
5p quenchua2 15-12-2019 9 0 Download
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In maize, zeins are the main protein components of seed stores. It is the major determinants of nutritional imbalance when utilized as the sole food source. Zeins having four subfamilies (α, β, γ, and δ). Among these, α zeins are the major prolamin subunits in maize. Opaque-2 (o2) is a natural recessive mutation that is exploited for breeding varieties. However, it possessed some adverse pleiotropic effect so, the combination ofopaque-2 allele with its genetic modifiers composed to breed QPM genotypes that having a hard kernel with a high content of lysine and tryptophan.
10p nguaconbaynhay1 04-12-2019 18 0 Download
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Although the pathogenesis of paediatric-onset autoimmune hepatitis (pAIH) remains incompletely understood, genetic variants and environmental factors are known to be involved. Caspase recruitment domain family member 10 (CARD10) is a scaffold protein that participates in a complex pathway activating nuclear factor kappa-B (NFjB) and tumour necrosis factor alpha (TNF-a). This study aimed to investigate the association of CARD10 rs6000782 (g.37928186A > C) and TNF gene promoter rs1799724 (c.-1037C > T) variants with pAIH susceptibility in a cohort of Egyptian children.
8p trinhthamhodang1 14-11-2019 40 2 Download
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Chapter 12 - Patterns of inheritance, after studying this chapter, you should be able to accomplish the following outcomes: List the approaches to science that made Gregor Mendel's genetic experiments successful, define Mendel's law of segregation, contrast dominant alleles with recessive alleles, define genotype and phenotype,...
41p tangtuy07 02-04-2016 31 3 Download
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Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.] Table 101-3 Inherited Diseases of the Red Cell MembraneCytoskeleton Gene Chromoso mal Location Protei n Produced s) Disease( with s Comment Certain Mutations (Inheritance) SPTA1 1q22-q23 αSpectrin HS (recessive) Rare.
5p thanhongan 07-12-2010 75 3 Download
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Figure 62-10 Segregation of alleles. Segregation of genotypes in the offspring of parents with one dominant (A) and one recessive (a) allele. The distribution of the parental alleles to their offspring depends on the combination present in the parents. Filled symbols = affected individuals. Autosomal Dominant Disorders Autosomal dominant disorders assume particular relevance because mutations in a single allele are sufficient to cause the disease.
5p konheokonmummim 03-12-2010 55 3 Download
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Phenotypic Heterogeneity Phenotypic heterogeneity occurs when more than one phenotype is caused by allelic mutations (e.g., different mutations in the same gene) (Table 62-4). For example, laminopathies are monogenic multisystem disorders that result from mutations in the LMNA gene, which encodes the nuclear lamins A and C. Twelve autosomal dominant and four autosomal recessive disorders are caused by mutations in the LMNA gene.
5p konheokonmummim 03-12-2010 44 3 Download