Related Concept Videos
01:49Law of Segregation
78.5K
When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
78.5K
02:46Chi-square Analysis
44.4K
The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...
44.4K
01:49Hardy-Weinberg Principle
76.8K
Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
76.8K
01:43Incomplete Dominance
30.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.6K
01:18Dihybrid Crosses
81.8K
Overview
81.8K
02:03Law of Independent Assortment
63.1K
While Mendel’s Law of Segregation states that the two alleles for one gene are separated into different gametes, a different question of how different genes are inherited remains. For example, is the gene for tall plants inherited with the gene for green peas? Mendel asked this question by experimenting with a dihybrid cross; a cross in which both parents are homozygous for two distinct traits resulting in an F1 generation that are heterozygous for both traits.
63.1K
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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In SLE genetics, white does not equal black, 1+1 does not equal 2.
1Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Science Immunology
|August 6, 2017
Summary
This study investigated how genetic factors influence systemic lupus erythematosus (SLE) risk across diverse populations. Findings reveal a significant association between overall genetic burden and the likelihood of developing SLE.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a significant genetic component.
- Understanding the interplay between genetic load and disease susceptibility is crucial for developing targeted therapies.
- Previous studies have explored genetic associations, but a transancestral approach offers broader insights.
Purpose of the Study:
- To examine the relationship between cumulative genetic burden and the risk of developing systemic lupus erythematosus (SLE).
- To investigate this association across diverse ancestral populations, accounting for genetic heterogeneity.
- To identify potential genetic markers that contribute to SLE pathogenesis.
Main Methods:
- Conducted a transancestral genetic study involving multiple ancestral cohorts.
- Utilized genome-wide association studies (GWAS) to assess genetic variants.
- Calculated polygenic risk scores to quantify overall genetic load for SLE.
Main Results:
- Demonstrated a significant positive correlation between higher genetic load and increased SLE risk across all investigated ancestral groups.
- Identified specific genetic loci contributing to this association, with varying effect sizes across populations.
- The transancestral approach provided a more robust estimation of genetic risk compared to single-ancestry analyses.
Conclusions:
- Genetic load is a critical determinant of SLE risk, independent of specific ancestral background.
- A comprehensive, transancestral genetic analysis is essential for understanding the complex etiology of SLE.
- These findings may inform future genetic screening and personalized medicine approaches for SLE patients.