scholarly journals The transitivity of the Hardy-Weinberg law

2021 ◽  
Author(s):  
Jan Graffelman ◽  
Bruce S. Weir
Keyword(s):  
Statistical Tests ◽  
Allelic Polymorphism ◽  
Test Results ◽  
Genotype Frequencies ◽  
Evolutionary Changes ◽  
The Us ◽  
Allele Imbalance ◽  
Hardy Weinberg Equilibrium ◽  
Straightforward Proof ◽  
Equilibrium Status

AbstractThe reduction of multi-allelic polymorphisms to variants with fewer alleles, two in the limit, is addressed. The Hardy-Weinberg law is shown to be transitive in the sense that a multi-allelic polymorphism that is in equilibrium will retain its equilibrium status if any allele together with its corresponding genotypes is deleted from the population. Similarly, the transitivity principle also applies if alleles are joined, which leads to the summation of allele frequencies and their corresponding genotype frequencies. These basic polymorphism properties are intuitive, but they have apparently not been formalized or investigated. This article provides a straightforward proof of the transitivity principle, and its usefulness in practical genetic data analysis with multi-allelic markers is explored. In general, results of statistical tests for Hardy-Weinberg equilibrium obtained with polymorphisms that are reduced by deletion or joining of alleles are seen to be consistent with the formulated transitivity principle. We also show how the transitivity principle allows one to identify equilibrium-offending alleles, and how it can provide clues to genotyping problems and evolutionary changes. For microsatellites, which are widely used in forensics, the transitivity principle implies one expects similar results for statistical tests that use length-based and sequence-based alleles. High-quality autosomal microsatellite databases of the US National Institute of Standards and Technology are used to illustrate the use of the transitivity principle in testing both length-based and sequence-based microsatellites for Hardy-Weinberg proportions. Test results for Hardy-Weinberg proportions for the two types of microsatellites are seen to be largely consistent and can detect allele imbalance.

scholarly journals FREQUENCY OF GENE ACE I POLYMORPHISM I-D IN ATHLETES OF DIFFERENT SPORTS

2020 ◽  
Vol 26 (2) ◽  
pp. 107-112
Author(s):  
Agnelo Weber de Oliveira Rocha ◽  
Whendel Mesquita do Nascimento ◽  
Cintia Mara da Costa Oliveira ◽  
José Moura Pereira Neto ◽  
Ozanildo Vilaça do Nascimento ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Test Results ◽  
Level Of Evidence ◽  
Male And Female ◽  
Ace Polymorphism ◽  
Sports Science ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
Individual Sports ◽  
Enzyme I

ABSTRACT Introduction: The angiotensin-converting enzyme I-D (ACE) polymorphism gene is one of the most widely investigated genetic variations in sports science. Apparently, allele I is related to endurance sports, while allele D is related to power-strength activities. Nevertheless, studies have presented controversial results when it comes as to its occurrence in a variety of sports. Objective: This study aims to evaluate the frequency of gene ACE polymorphism I-D in professional athletes of collective or individual sports. Methods: Five mL blood were collected from 189 subjects divided into two groups: athletes (AG, n=127, wrestling, taekwondo, soccer, futsal and handball) and non-athletes (NAG, n=62). The athletes group was subdivided by group modalities, into: collective and individual. Both groups were further subdivided into male and female. Thus, we have the groups FAC= collective female, FAI= individual female, MAC= collective male, and MAI= individual male. The statistical analysis was carried out by frequency test, and the Hardy- Weinberg equilibrium by the x² test. Results: The results for the AG group indicated the following frequencies: DD=7%, ID=44% and II=49%. Allele frequency: D=29% and I=71%. For the NAG, the results were: DD=6.5%, ID=45.2% and II=48%. Allele frequency: D=29% and I=71%. The AG genotypic and allele frequencies did not differ statistically from those of the NAG (p= 0.982 and p= 0.984, respectively). However, we noticed that the genotypes II and ID frequencies were significantly higher than those of the DD. Conclusion: It can be concluded that the genotypic and allelic I-D frequencies of the ACE gene do not seem to influence performance in either group or individual sports. ACTN3 genotype frequencies did not vary significantly between male and female control subjects, and overall, there was no significant deviation from Hardy-Weinberg (H-W) equilibrium. Level of evidence I; Diagnostic studies–Investigating diagnostic test.

scholarly journals The Effect Of Counseling On The Adherence Of Therapeutic Hypertension Patients

2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Gita Sekar Prihanti ◽  
Novi Puspita Sari ◽  
Nur Indah Septiani ◽  
Laura Putri Risty L. Tobing ◽  
Annisa Rahayu Adrian ◽  
...  
Keyword(s):  
Family Support ◽  
Statistical Tests ◽  
Adherence Rate ◽  
Test Results ◽  
A Value ◽  
Significant Difference ◽  
Post Test ◽  
Lifestyle Education ◽  
Nonparametric Statistical ◽  
Adherence To Therapy

Failure of therapy is a result of bad adherence  medication. Non-adherence to therapy is a major factor that is suspected to result in uncontrolled blood pressure in hypertensive patients resulting in more serious complications. Therefore it is important to increase the adherence rate of treatment in patients with hypertension in the treatment process. For this reason, the need for interventions to improve  adherence  with several aspects that can be changed. This study uses One Group Pretest-Posttest Design using 100 samples. Data derived from questionnaires containing 25 items of adherence to therapy, 5 items of knowledge, 4 items of trust, 3 items of motivation, 10 items of family support with nonparametric statistical tests used were Mc Nemar test. Mc Nemar test results indicate that there is a significant difference between adherence at the pre-test and at the post-test after counseling with a significance value (p = 0,000). The results also showed that there was a difference in knowledge with a significance value (p = 0.001), motivation with a value (p = 0.031) and family support with a value (p = 0,000). The education with counseling about knowledge, trust, motivation and family support is effective in increasing compliance. There are other changeable factors such as lifestyle education, patient doctor relationships, and the use of smartphone applications for self-reported therapy can improve adherence in patients thereby minimizing therapy failure. Other educational methods that can be used besides counseling are counseling and dissemination of social media information.

scholarly journals ANALISIS FAKTOR-FAKTOR YANG MEMPENGARUHI IMPOR BERAS DI INDONESIA

2019 ◽  
Vol 11 (2) ◽  
pp. 183-201
Author(s):  
Yona Namira ◽  
Iskandar Andi Nuhung ◽  
Mudatsir Najamuddin
Keyword(s):  
Time Series ◽  
Linear Regression ◽  
Multiple Linear Regression ◽  
Time Series Data ◽  
Series Data ◽  
Test Results ◽  
The Us ◽  
Rice Prices ◽  
Us Dollar ◽  
Spss Software

This study aims to 1) identify factors that affect the import of rice in Indonesia 2) analyze the influence of these factors on imports of rice in Indonesia. The data used in this research are time series data from 1994 to 2013 from the Central Statistics Agency (BPS), the Ministry of Agriculture, Ministry of Commerce, National Logistics Agency (Bulog), and Bank Indonesia. Multiple linear regression through SPSS software version 21 was employed to analyze the data. The test results together indicated the variables of productions, consumptions, stocks of rice, domestic rice prices, international rice prices and the rupiah against the US dollar affect the imports of rice in Indonesia.

scholarly journals Prevalence and Outcome of COVID-19 Infection in Cancer Patients: A National Veterans Affairs Study

2020 ◽  
Author(s):  
Nathanael R Fillmore ◽  
Jennifer La ◽  
Raphael E Szalat ◽  
David P Tuck ◽  
Vinh Nguyen ◽  
...  
Keyword(s):  
African American ◽  
Cancer Patients ◽  
Hematologic Malignancy ◽  
Statistical Tests ◽  
Veterans Affairs ◽  
Attributable Mortality ◽  
Cancer Type ◽  
The Us ◽  
Charlson Comorbidity Score ◽  
Cancer Types

Abstract Background Emerging data suggest variability in susceptibility and outcome to coronavirus disease 2019 (COVID-19) infection. Identifying risk factors associated with infection and outcomes in cancer patients is necessary to develop healthcare recommendations. Methods We analyzed electronic health records of the US Veterans Affairs Healthcare System and assessed the prevalence of COVID-19 infection in cancer patients. We evaluated the proportion of cancer patients tested for COVID-19 who were positive, as well as outcome attributable to COVID-19, and stratified by clinical characteristics including demographics, comorbidities, cancer treatment, and cancer type. All statistical tests are 2-sided. Results Of 22 914 cancer patients tested for COVID-19, 1794 (7.8%) were positive. The prevalence of COVID-19 was similar across age. Higher prevalence was observed in African American (15.0%) compared with White (5.5%; P < .001) and in patients with hematologic malignancy compared with those with solid tumors (10.9% vs 7.8%; P < .001). Conversely, prevalence was lower in current smokers and patients who recently received cancer therapy (<6 months). The COVID-19–attributable mortality was 10.9%. Higher attributable mortality rates were observed in older patients, those with higher Charlson comorbidity score, and in certain cancer types. Recent (<6 months) or past treatment did not influence attributable mortality. Importantly, African American patients had 3.5-fold higher COVID-19–attributable hospitalization; however, they had similar attributable mortality as White patients. Conclusion Preexistence of cancer affects both susceptibility to COVID-19 infection and eventual outcome. The overall COVID-19–attributable mortality in cancer patients is affected by age, comorbidity, and specific cancer types; however, race or recent treatment including immunotherapy do not impact outcome.

scholarly journals Some Nonparametric Statistical Tests for Quick Evaluation of Clinical Data

1975 ◽  
Vol 21 (3) ◽  
pp. 309-314 ◽  
Author(s):  
E Melvin Gindler
Keyword(s):  
Control Chart ◽  
Patient Population ◽  
Statistical Tests ◽  
Test Results ◽  
Laboratory Error ◽  
Unusual Distribution ◽  
Run Test ◽  
Nonparametric Statistical ◽  
And Control ◽  
The Given

Abstract Some rapid statistical tests give (a) rapid answers on how well methods agree and control chart evaluation (sign and run tests) and (b) evaluation of distribution of test results (Tukey's quick test and run test). These tests mainly require counting of data and the use of the given nomograms. An unusual distribution of patient test values—that is, unusual when compared with the generally observed distribution of the data seen in a particular laboratory—may indicate laboratory error, alteration of specimens (as from poor collection and/or storage techniques, such as evaporation), or an unusual patient population.

Solving Hardy-Weinberg with Geometry: An Integration of Biology and Math

2017 ◽  
Vol 79 (4) ◽  
pp. 309-312
Author(s):  
Laura A. Schoenle ◽  
Matthew Thomas
Keyword(s):  
Scientific Theory ◽  
Geometric Interpretation ◽  
Student Understanding ◽  
Weinberg Equilibrium ◽  
The Core ◽  
Distributive Property ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
Using Data ◽  
And Mathematics

Introducing Hardy-Weinberg equilibrium into the high school or college classroom can be difficult because many students struggle with the mathematical formalism of the Hardy-Weinberg equations. Despite the potential difficulties, incorporating Hardy-Weinberg into the curriculum can provide students with the opportunity to investigate a scientific theory using data and integrate across the disciplines of biology and mathematics. We present a geometric way to interpret and visualize Hardy-Weinberg equilibrium, allowing students to focus on the core ideas without algebraic baggage. We also introduce interactive applets that draw on the distributive property of mathematics to allow students to experiment in real time. With the applets, students can observe the effects of changing allele frequencies on genotype frequencies in a population at Hardy-Weinberg equilibrium. Anecdotally, we found use of the geometric interpretation led to deeper student understanding of the concepts and improved the students' ability to solve Hardy-Weinberg-related problems. Students can use the ideas and tools provided here to draw connections between the biology and mathematics, as well as between algebra and geometry.

scholarly journals Prevalence of Some Genetic Risk Factors for Nicotine Dependence in Ukraine

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Vitalina Bashynska ◽  
Alexander Koliada ◽  
Kateryna Murlanova ◽  
Oksana Zahorodnia ◽  
Yuliia Borysovych ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Nicotine Dependence ◽  
Genetic Risk ◽  
Strong Risk Factor ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Larger Sample ◽  
European Populations

Tobacco smoking is known to be a strong risk factor for developing many diseases. The development and severity of smoking dependence results from interaction of environmental and lifestyle factors, psycho-emotional predispositions, and also from genetic susceptibility. In present study, we investigated polymorphic variants in genes contributed to nicotine dependence, as well as to increased impulsivity, known to be an important risk factor for substance use disorders, in Ukraine population. The genotype frequencies at CYP2A6, DNMT3B, DRD2, HTR2A, COMT, BDNF, GABRA2, CHRNA5, and DAT1 polymorphisms were determined in 171 Ukraine residents, and these data were compared with data for several other European populations and main ethnic groups. It has been found that genotype frequencies for all studied loci are in Hardy-Weinberg equilibrium in the Ukrainian population and correspond to the respective frequencies in European populations. These findings suggest a similar impact of these loci on nicotine dependence in Ukraine. Further studies with larger sample sizes are, however, needed to draw firm conclusions about the effect size of these polymorphisms.

Genetics of Cronartium ribicola. III. Mating System

1996 ◽  
Vol 74 (11) ◽  
pp. 1852-1859 ◽  
Author(s):  
Matthew A. Gitzendanner ◽  
Gayle E. Dupper ◽  
Eleanor E. White ◽  
Brett M. Foord ◽  
Paul D. Hodgskiss ◽  
...  
Keyword(s):  
Mating System ◽  
Genetic Recombination ◽  
Random Mating ◽  
Cronartium Ribicola ◽  
White Pine Blister Rust ◽  
Mendelian Segregation ◽  
Weinberg Equilibrium ◽  
Forest Pathogen ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium

Lack of genetic markers has hindered the study of the mating system of Cronartium ribicola, an exotic forest pathogen Meeting natural and cultivated white pines throughout North America. Isozymes, randomly amplified polymorphic DNA (RAPDs), and restriction length polymorphisms (RFLPs) were used to study the mating system of this rust. Heterozygosity (outcrossing) in diploid telia was demonstrated by analysis of cultures derived from the meiotic products (basidiospores) of individual telia. Families of basidiospores cultured from single telia were used to test for Mendelian segregation and for conformance of loci to Hardy–Weinberg equilibrium. A total of 18 polymorphic loci were identified with the three marker systems. All except for three RAPD loci showed Mendelian segregation in the single-telium families. To quantify the level of outcrossing, gene and genotype frequencies were calculated for families from a single population. Up to 24 families were surveyed with isozymes, 14 with RAPDs, and 18 with RFLPs. Except for one isozyme locus (MPI) in one sample, all 14 loci tested with these families were in Hardy–Weinberg equilibrium, indicating random mating. Further studies, with a different sample from the same population, showed all three isozyme loci to be in Hardy–Weinberg equilibrium. The three marker systems were consistent as to the amount of variation detected. Resistance selection and breeding programs must consider the implications of genetic recombination that outcrossing affords the rust. Keywords: isozymes, RAPDs, RFLPs, Hardy–Weinberg equilibrium, white pine blister rust.

Gene Frequencies of the HNA-4a and -5a Neutrophil Antigens in Brazilians and a New Polymerase Chain Reaction-Restriction Fragment Length Polymorfism Method for HNA-5a Genotyping.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3869-3869
Author(s):  
José D.B. Cardone ◽  
Akemi K. Chiba ◽  
Angela M.M.I. Norcia ◽  
João P.B. Vieira-Filho ◽  
José O. Bordin
Keyword(s):  
Restriction Fragment ◽  
Fragment Length ◽  
Blood Donors ◽  
Population Studies ◽  
Allelic Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Gene Frequencies ◽  
Cycle Sequencing ◽  
Genotype Frequencies ◽  
Restriction Fragment Length

Abstract The HNA-4 and HNA-5 systems are located on the b2-integrin, that share a common b subunit (b 2 or CD18) noncovalently associated with four different a subunits. The HNA-4a (Mart) and HNA-5a (Ond) antigens are polymorfic variants of a M (CD11b) and a L (CD11a) subunits, respectively, and both are associated with single nucleotide polymorphisms (SNP) leading to amino-acid dimorphisms. HNA-4a has been recently linked to alloimmune neonatal neutropenia while the HNA-5a clinical significance is not clear yet. Using a PCR with sequence-specific primers (SSP) the frequency of allelic polymorphism of HNA-4a among 121 Brazilian blood donors and 114 Amazon Indians was determined. A novel PCR-restriction fragment length polymorphism (RFLP) method digesting the PCR product with the enzyme Bsp1286 I for HNA-5a genotyping was developed, and the gene frequencies of this antigen were determined among 123 Brazilian blood donors and 114 Amazon Indians. In order to validate this proposed new genotyping method, the amplified genomic DNA from 6 previously genotyped samples (2 of each genotype) was purified using a commercial kit (GFX PCR DNA and Gel Band Purification Kit, Amersham Bioscience, Piscataway, NJ, USA), sequenced using a cycle-sequencing kit (BigDye Terminator, PE Applied Biosystems, Foster City, CA, USA) and analyzed on a genetic analyzer (ABI Prism 3100, PE Applied Biosystems). The calculated HNA-4a (+/+), HNA-4a (+/−) and HNA-4a (−/−) genotype frequencies found in blood donors (0.686, 0.273 and 0.041) and Amazon Indians (1.000, 0.000 and 0.000) presented statistically significant differences (p<0.01). The frequencies of HNA-5a (+/+), HNA-5a (+/−) and HNA-5a (−/−) genotypes among blood donors (0.512, 0.399 and 0.089) and Amazon Indians (0.746, 0.219 and 0.035) also differed significantly (p<0.01). Sequencing studies demonstrated absolute concordance with PCR-RFLP genotyping results in all 6 analyzed samples. Overall, the present data indicate that comparing to other population studies, the Brazilian population presents a higher frequency of the HNA-4a-negative allele, suggesting that Brazilians would be more susceptible to HNA-4a alloimmunization by pregnancy or blood transfusion. Moreover, the distribution of the HNA-4 system alleles observed in Amazon Indians is quite similar to that already reported among Korean individuals. Besides that, a new effective and efficient HNA-5a genotyping technique is now available for population studies.

Disequilibrium of Human Platelet Antigen 1 (HPA-1) in U.S. Population

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5466-5466
Author(s):  
Tyler Davi d Hutchinson ◽  
Yuhua Song ◽  
Kevin Trainor ◽  
Ghazala Hashmi
Keyword(s):  
Human Platelet ◽  
Embryo Implantation ◽  
The United States ◽  
Implantation Failure ◽  
Random Group ◽  
Weinberg Equilibrium ◽  
Genotype Frequencies ◽  
Chi Squared ◽  
Human Platelet Antigen ◽  
Hardy Weinberg Equilibrium

Abstract Background: Alloimmunization against Human Platelet Antigens (HPA) is associated with Neonatal Alloimmune Thrombocytopenia (NAIT), post-transfusion purpura and refractoriness for platelet transfusion. A flexible BeadChip™ design was developed to simultaneously detect 22 platelet antigens, including HPA-1, and used to assay over 1,000 random blood donors from across the United States. Methods: Samples from 19 labs/centers from across the country were assayed for 11 HPA loci (HPA-1 through 9, 11 and 15) using the BioArray Solutions HPA Assay. Each locus was independently assessed for Hardy-Weinberg Equilibrium. Results: Allele and genotype frequencies for each locus were reported. Platelet antigens HPA-2 through HPA-9, HPA-11 and HPA-15 were all found to be in Hardy-Weinberg Equilibrium with a Chi-Squared value of &lt;3.84 (1 degree of freedom, 5% confidence interval). HPA-1, however, did not exhibit Hardy-Weinberg Equilibrium yielding a Chi-Squared value of 43.4. Conclusions: After reaffirming there was no sampling preference by inclusion of a second blinded random group, it was acknowledged that HPA-1 did not conform to a Mendelian distribution of alleles. The lower incidence of heterozygote HPA-1 individuals may lend credence to the recent finding by Ivanov et al (Akush Ginekol, 2007) linking the polymorphism in GPIIIa that is responsible for the HPA-1 antigen with embryo implantation failure. Further research may help elucidate the causes behind the HPA-1 disequilibrium and how much implantation failure impacts HPA-1 frequencies.

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