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Showing 1 to 20 of 52 for “"Heterozygotes"”.
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Preferential Pairing in Structural Heterozygotes of Zea Mays
Made available in DSpace on 2014-12-05T22:00:12Z (GMT). No. of bitstreams: 1 6100113.pdf: 3614686 bytes, checksum: 57f7b13bc2ff10c537be037762c53e2c (MD5) Previous issue date: 1960
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Η ετερογένεια των γ-αλυσίδων σε περιπτώσεις με αυξημένη εμβρυϊκή αιμοσφαιρίνη
… conditions. The ᴳγ-chain levels in Greek β-thal. heterozygotes were those observed in adults, with only one exception concerning an 83 year old woman. The level of the ᴬγᵀ-chain in ᴬγᵀ heterozygotes varied greatly whether in cis or in trans to the β-thal. determinant. Beta thal. homozygotes had ᴳγ …
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Biochemical Characterization of a Partial Deficiency for Ump Synthase in Holstein Cattle (Enzyme, Genetic Disorder, Metabolic Defect, Hereditary Orotic Aciduria)
… was shown to be present in hemolysates of heterozygotes by immunotitration of enzyme activity. The activities comprising UMP synthase, orotate phosphoribosyltransferase (OPRT) and orotidine-5'-monophosphate (OMP) decarboxylase (ODC) were measured separately. ODC activity was about 47% of …
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Ο ΧΑΛΚΟΣ ΤΟΥ ΟΡΟΥ ΕΠΙ ΟΜΟΖΥΓΟΥ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΚΑΙ ΔΡΕΠΑΝΟΚΥΤΤΑΡΙΚΗΣ ΝΟΣΟΥ ΣΕ ΣΥΣΧΕΤΙΣΜΟ ΠΡΟΣ ΤΟΝ ΣΙΔΗΡΟ ΤΟΥ ΟΡΟΥ ΚΑΙ ΤΗΝ ΗΠΑΤΙΚΗ ΛΕΙΤΟΥΡΓΙΑ
… DISEASE. PATIENTS WERE COMPARED TO 15 HETEROZYGOTES OF B-THALASSAEMIA, 15 HETEROZYGOTES OF SICKLE-CELL ANAEMIA AND 133 HEALTHY PERSONS. THE CONCLUSIONS ARE AS FOLLOW. 1. LIVER FUNCTION WAS FOUND NORMAL AMONG HEALTHY PERSONS AND ALL GROUPS OF PATIENTS. 2. SERUM NON LEVELS WERE FOUND IN …
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CONTRIBUTIONS OF THE 3' HOX GENES, HOXA1, HOXB1, AND HOXB2, TO PATTERNING OF THE AXIAL SKELETON DURING DEVELOPMENT
… increase in penetrance in Hoxb1/Hoxb2 trans-heterozygotes, compared to single heterozygotes. Through the use of transgenic mouse strains, we were also able to reproduce similar transformations upon addition of extra HoxB gene copies. Interestingly, the defects observed in these …
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RNA helicase MOV10 is essential for gastrulation and normal CNS development
… in the brain, we further examined the Mov10 heterozygotes in this study. We found an increase in L1 genomic DNA content in the Mov10 heterozygote brains at P2 compared to WT brains from the same stage, corroborating Mov10’s role in suppressing L1 retrotransposition. RNA isolation followed by …
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Association of Polymorphic Blood Group Systems and Relative Fitness in Pigs
… significant differences in the ratios of heterozygotes in homozygotes. In the E system, parental incompatibility seemed to be responsible for differences in litter size and survivability of offspring and there was no heterosis. Maternal-fetal incompatibility was found to be a source of …
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The Establishment and Regulation of Melanocyte Stem Cells in Zebrafish
… ontogeny and compare the regeneration of kit heterozygotes to wild type. The mutant heterozygotes have normal MSC recruitment and normal proliferation, differentiation, and survival of daughter cells. The mutant has defective MSC establishment, with this defect being quantitatively sufficient …
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Relationships Between Decorin and Biglycan, Structure and Tendon Mechanics Using Mutant Mouse Models
… mechanical properties were altered in decorin heterozygotes and biglycan nulls and heterozygotes. Compensatory increases in the expression of other SLRPs were noted in the biglycan mutant genotypes. Changes were also found in total collagen content and collagen structure, although collagen …
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Next Generation Sequencing: Applications for the Clinic
… is a method to determine the phase of compound heterozygotes; an important problem when recessive genes contain more than one mutation. The second is a process designed to identify and interpret chromosomal rearrangements that are related to disease. And finally, the third is a technique used to …
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Development of the Limb in Mice Bearing the Mutant Gene: Hypodactyly (Hd).
… through four on both forefeet and hind feet. The heterozygotes, which were fully viable and fertile, had a shortened hallux lacking the terminal phalanx and claw.
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Gaucher Disease Protects Against Tuberculosis
… accumulation occurring only in homozygotes, heterozygotes remain susceptible to tuberculosis. Thus, our findings reveal a mechanistic basis for protection against tuberculosis by GBA1 N370S and provide biological plausibility for its selection if the relatively mild deleterious effects in …
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Genetic polymorphism of the human apolipoproteins A and E
… homozygotes E 2/2, E 3/3, E 4/4 and the heterozygotes E 2/3, E 2/4, E 3/4, of apo E were demonstrated. A simplified one step screening method, not requiring ultracentrifugation techniques, was used to demonstrate the A apolipoproteins. As the method uses native serum, epo A-IV was …
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Investigation of cystathionine β-synthase as a cause of mild hyperhomocysteinaemia in patients with peripheral vascular disease
… The most appropriate criterion to identify heterozygotes for CBS deficiency under these circumstances is to measure reduced CBS activity on several separate occasions compared to a control group. Only one of the group of 12 PVD patients (patient 1000) was identified as a heterozygote for CBS …
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Chromosome aberrations in field strains of Blattella germanica
… in outcrosses and two reciprocal translocation heterozygotes occurred in the resistant strains. These two translocations have been tentatively identified as T(12:8)/12:8 from the Bowl strain and T(11:6)/11:6 from the K851 strain. T(12:8)/12:8 exhibits random disjunction at metaphase I. There …
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Monogenic hypercholesterolemia in South Africans : familial hypercholesterolemia in Indians and familial defective apolipoprotein B-100
… LOL-receptor mutations. In addition, 4 compound heterozygotes, who had both FOB and the FH Afrikaner-1 mutation and one individual whu inherited all 3 defects, were identified. This family allowed us to characterise the compound heterozygotes with one mutant LOLreceptor allele and FOB as having a …
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The role of heterozygous lysosomal storage disorder alleles as risk factors for dementia
… are recessively inherited, and until recently, heterozygotes were considered asymptomatic carriers. However, there is increasing evidence of some pathophysiology in heterozygotes, especially during ageing. This study aimed to investigate the impact of a heterozygous lysosomal storage disorder …
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Spatial Genetic Structure in the Mount Vernon Prairie Population of Rudbeckia Hirta
… or multiple loci; there was not a trend toward heterozygotes being larger or smaller in the population.
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