Non-viral liver disease
Michael JG Farthing, Anne B Ballinger in Drug Therapy for Gastrointestinal and Liver Diseases, 2019
Alpha1 antitrypsin (α1AT) is an enzyme encoded by a gene on the long arm of chromosome 14 that protects tissues from proteases.83 The phenotype is transmitted by autosomal codominance. There are about 75 different α1AT alleles.86 The phenotype protease inhibitor (Pi) MM is present in 95% of the population and is associated with normal serum levels of α1AT. A single nucleotide substitution (glu→lys) leads to Zα1AT protein. PiZZ is prevalent in 1/2000 of the population and is accompanied by severe deficiency of α1AT. PiMZ leads to intermediate deficiency. Deficiency of α1AT in the serum leads to emphysema, while, in contrast, the liver disease relates to the presence of the abnormal Z protein in the liver as opposed to the serum level of α1AT. Liver disease is seen in both patients with PiZZ and PiMZ.
Genetics
Frank J. Dye in Human Life Before Birth, 2019
It was also pointed out that there is a pair of alleles for each unit character, and this is generally true in a given individual. But a population of individuals may have more than one pair of alleles for a given character. This is called multiple allelism. The human ABO blood typing system exhibits both multiple allelism and intermediate inheritance. There are three alleles for ABO in the human population, designated IA, IB, and i, even though a given individual will have only two. The alleles IA and IB exhibit intermediate inheritance (or codominance). Neither one is dominant or recessive to the other and both influence the phenotype. On the other hand, both IA and IB are dominant over i, which is recessive. Because the three different alleles may be combined in six different pairs—IAIA, IAi, IBIB, IBi, IAIB, and ii—there are six different genotypes in the human population that generate four different phenotypes: Type A (IAIA or IAi), Type B (IBIB, IBi), Type AB (IAIB), and Type O (ii) blood.
Genetic research in Edinburgh, 1964–1979
Kiheung Kim in The Social Construction of Disease, 2006
The simplest kinds of dominance relations obtain in cases where one allele of a gene codes for a faulty, and therefore inactive, version of an enzyme, while the other allele codes for the active version. Organisms homozygotic for the faulty version of the gene will be unable to produce an active version of that enzyme, so will lack the function that it fulfils. On the other hand, organisms homozygotic for the normal allele will be able to produce an active enzyme, and so will display that function. In the case of heterozygotes, a single copy of the functional gene exists, so they too will be able to produce the active enzyme. In this case, the functional allele will display dominance over the faulty one. The degree of dominance will then depend on further factors. In cases where a single copy of the normal allele is sufficient to produce enough of the relevant enzyme for full functionality, then heterozygous organisms will be functionally identical to those with two copies of the normal allele, thus complete dominance will obtain. On the other hand, in cases where the functionality of the enzyme depends upon the quantities in which it is produced, and where possession of a single copy of the relevant gene results in the production of less enzyme than in organisms possessing two copies, then functionality will be compromised in the heterozygote and dominance will be incomplete.
Change of direction frequency off the ball: new perspectives in elite youth soccer
Published in Science and Medicine in Football, 2022
Oliver J Morgan, Barry Drust, Jack D Ade, Mark A. Robinson
In conclusion, this study used a clearly defined and reliable manual notational system to identify CODs. Elite youth soccer players changed direction 305 times per match, with on average 19 seconds of recovery between CODs. Significantly less CODs occurred in the 2nd half. The average and peak within match demands within 15 and 5-minute periods were 49 and 62 CODs, and 16 and 25 CODs, respectively. CODs were independent of position, leg dominance and anthropometry, and occurred equally between left and right, and forwards and backwards directions with 77% of these CODs occurring ≤90°. The present data provides practitioners with COD frequency references and COD qualities to contextualise and enhance training, as well as provide guidance for COD test selection. Further research is required to provide more insight on the characteristics of CODs during soccer match play.
Haplotype analysis of VEGF gene polymorphisms in polycystic ovary syndrome
Published in Gynecological Endocrinology, 2019
Mariana Kefalás de Oliveira Gomes, Deize de Cássia Antonino, Marly Aparecida Spadotto Balarin, Sarah Cristina Sato Vaz Tanaka, Marina Almeida Caldeira, Alessandra Bernadete Trovó de Marqui, Marco Fábio Prata Lima, Elisabete Aparecida Mantovani Resende, Mariangela Torreglosa Ruiz Cintra
The SNPStats program (available at <http://bioinfo.iconcologia.net/SNPstats_web>) was used for the logistic regression model adjusted for age. It was also used to evaluate the association between polymorphisms and the development of PCOS. The effect of polymorphisms was evaluated by the following models: (1) codominance (wild-type homozygote × heterozygous × polymorphic homozygote); (2) dominance (wild-type homozygous × heterozygous + polymorphic homozygous); (3) recessive (polymorphic homozygote × wild-type + heterozygous homozygote) and (4) overdominance (wild type homozygote + polymorphic homozygote × heterozygous). The haplotype from VEGF gene polymorphisms was inferred using the SNPStats program, checking the estimated population frequency of the haplotypes [21].
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations
Published in Ophthalmic Genetics, 2021
Ayca Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celık, Rafet Koca, Ahmet Dursun
Statistical analysis was performed using the SPSS software (version. 19.0; SPSS Inc., Chicago, IL, USA). Distribution of data was determined by the Shapiro–Wilk test. The Mann-Whitney U tests were used to compare groups in terms of numerical variables. The χ2 test was used to compare genotype and allele frequency of each gene polymorphisms between BD patients and controls. OR and 95% confidence interval (CI) were calculated to compare BD risk around genotypes and alleles. P ≤ 0.05 was considered as statistically significant. Analyses were performed using dominant, additive and recessive models. Dominance was defined in terms of allele 2 effects. In dominant allele 2 models, homozygous individuals for allele 1 were compared with carriers of allele 2. In recessive allele 2 models, homozygous individuals for allele 2 were compared with carriers of allele 1. A post-hoc power calculation was performed using the G-Power software.