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Retinitis pigmentosa is a disease that manifests itself via different genetic modes of inheritance. Cases have been documented with a dominant, recessive, and sex-linked mode of inheritance. It has been conjectured that mode of inheritance is related to the ethnic origin of the individual. Cases of the disease have been surveyed in an English and a Swiss population with the following results: Of 125 English cases, 46 had sex-linked disease, 25 had recessive disease, and 54 had dominant disease. Of 110 Swiss cases, 1 had sex- linked disease, 99 had recessive disease, and 10 had dominant disease. Do these data show a significant association between ethnic origin and genetic type?

Short Answer

Expert verified
The Chi-square test determines whether there is a significant association between ethnic origin and genetic type.

Step by step solution

01

Understand the data

We are given two populations with different cases of retinitis pigmentosa categorized by their mode of inheritance. The English population has a total of 125 cases, distributed as 46 sex-linked, 25 recessive, and 54 dominant. The Swiss population has 110 cases with 1 sex-linked, 99 recessive, and 10 dominant.
02

Set up the null hypothesis

Our null hypothesis is that there is no association between ethnic origin (English or Swiss) and the genetic type of retinitis pigmentosa. This means the genetic type distribution is the same across the two populations.
03

Organize the data in a contingency table

Create a contingency table for the observed frequencies:\[\begin{array}{|c|c|c|c|}\hline & \text{Sex-linked} & \text{Recessive} & \text{Dominant} \\hline\text{English} & 46 & 25 & 54 \\hline\text{Swiss} & 1 & 99 & 10 \\hline\end{array}\]
04

Calculate expected frequencies

For each cell in the table, the expected frequency can be calculated assuming the null hypothesis is true. The formula for expected frequency is:\[ E_{ij} = \frac{(\text{Row Total}) \times (\text{Column Total})}{\text{Grand Total}} \]Calculate these values for each combination (e.g., English, sex-linked).
05

Perform Chi-square test

Calculate the Chi-square statistic using the formula:\[ \chi^2 = \sum \frac{(O_{ij} - E_{ij})^2}{E_{ij}} \]Where \( O_{ij} \) are the observed frequencies and \( E_{ij} \) are the expected frequencies. Compute this sum over all cells in the table.
06

Determine degrees of freedom

The degrees of freedom for the Chi-square test in this context is calculated as:\[ df = (R-1) \times (C-1) \]Where \( R \) is the number of rows and \( C \) is the number of columns.
07

Compare the Chi-square statistic to the critical value

Using the computed Chi-square statistic and the degrees of freedom, check the Chi-square distribution table to find the critical value at a chosen significance level, usually 0.05. Determine if the Chi-square statistic exceeds the critical value.
08

Conclusion

If the Chi-square statistic is greater than the critical value, reject the null hypothesis and conclude there is a significant association between ethnic origin and genetic type. Otherwise, do not reject the null hypothesis.

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Key Concepts

These are the key concepts you need to understand to accurately answer the question.

Genetic Inheritance
Genetic inheritance is the process by which genetic information is passed from parents to offspring. This process can lead to traits or diseases manifesting in offspring. In the context of retinitis pigmentosa, genetic inheritance plays a vital role because this disease is observed through different modes: dominant, recessive, and sex-linked inheritance.

  • Dominant Inheritance: A trait or disorder is dominant if one copy of the altered gene in each cell is sufficient to cause the disorder.
  • Recessive Inheritance: This requires two copies of the altered gene, one from each parent, for the trait or disorder to manifest.
  • Sex-linked Inheritance: Often involves genes on the X chromosome, and disorders usually manifest more frequently in males since they have only one X chromosome.
Understanding these inheritance patterns is crucial in fields like biostatistics and epidemiology, where they help us predict the likelihood of disease spread and study patterns in populations.
Contingency Table Analysis
Contingency table analysis is a statistical method used to determine the relationship between two categorical variables. It helps in organizing data into a matrix so that we can easily compare different categories across various groups. In the context of this retinitis pigmentosa problem, ethnic origin and genetic type of the disease are the two categorical variables.

This matrix-like structure allows us to visualize how many cases of each type there are in each group, in this case, the English and Swiss populations.
  • The rows of the table represent different groups (English and Swiss).
  • Columns represent the different types of genetic inheritance (sex-linked, recessive, dominant).
The contingency table serves as the basis for conducting further statistical tests like the Chi-square test to examine any significant association between the variables.
Chi-square Test
The Chi-square test is a statistical test used to determine if there is a significant association between two categorical variables. It is particularly useful when dealing with large datasets in epidemiological studies.

For this dataset, the Chi-square test helps determine if the observed distribution of genetic inheritance types in the English and Swiss populations deviates significantly from what would be expected under the null hypothesis.
  • Null Hypothesis: Assumes no association between ethnic origin and genetic type of the disease.
  • Expected Frequencies: Calculated based on the overall distribution of the data, assuming the null hypothesis is true.
  • Chi-square Statistic: A measure of how much the observed data differ from the expected frequencies. It is calculated as: \[ \chi^2 = \sum \frac{(O_{ij} - E_{ij})^2}{E_{ij}} \]
By comparing your calculated Chi-square statistic to a critical value from the Chi-square distribution table (accounting for degrees of freedom), you can conclude whether a significant association exists.
Epidemiology
Epidemiology is the study of how diseases affect populations and how they can be controlled. In this context, the study involves retinitis pigmentosa across different populations to infer patterns of occurrence, spread, and control measures.

The ultimate goal of epidemiological studies is to understand how genetic inheritance and other factors contribute to the spread of a disease within and between different populations. Knowledge gained from these studies can help in planning preventive strategies and genetic counseling.
  • Population Study: Collect data on genetics and demographics to find patterns.
  • Risk Factors: Identify risk factors such as genetic predispositions that contribute to disease prevalence.
  • Control Measures: Develop methods to manage or reduce the spread of disease based on study findings.
By understanding the epidemiology of a disease like retinitis pigmentosa, healthcare professionals can better target interventions and inform public health strategies.

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