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Question

The table given below shows the Lod score values of three different pairs of genes studied for assessing if they are linked pairs:

Gene Pair '1'Gene Pair '2'Gene Pair '3'
Lod Score123

The following conclusions were made from the data given above:

A. For gene pair 1 the probability of the genes being linked is 10 times more likely than them assorting independently.

B. For gene pair 2, the Lod score 2 indicates that the probability of the genes being linked is twice more likely than assorting independently.

C. The genes of pair 1 and 2, can both be considered as linked, while the genes of pair 3 exhibits independent assortment.

D. The genes of pair 3 can be considered as linked.

Which one of the following options represents statement(s) that is/are correct?

The correct answer is

A and D

Understanding the Lod score is crucial for determining if genes are located close together on the same chromosome (linked) or if they are on different chromosomes or far apart on the same chromosome (assorting independently). The Lod score, which stands for Logarithm of odds, is a statistical test used in genetic linkage analysis. It tells us how much more likely the observed genetic data is if the genes are linked at a certain recombination frequency ($\theta$) compared to if they are assorting independently ($\theta = 0.5$).

The formula for the Lod score (Z) is:

$$Z = \log_{10} \left( \frac{\text{Likelihood of data at given } \theta}{\text{Likelihood of data at } \theta = 0.5} \right)$$

A higher Lod score indicates stronger evidence for linkage. A common threshold used is a Lod score of 3, which means the data is $10^3 = 1000$ times more likely if the genes are linked than if they assort independently. Conversely, a Lod score of -2 suggests the data is $10^{-2} = 1/100$ times as likely if linked than if independent, providing strong evidence against linkage. Scores between -2 and +3 are generally considered inconclusive.

Lod Score Interpretation Explained

The Lod score provides a direct ratio of the probability of linkage versus independent assortment, expressed on a log base 10 scale. If the Lod score is X, it means the data is $10^X$ times more likely under the assumption of linkage than under the assumption of independent assortment.

  • Lod Score = 1 means the probability of linkage is $10^1 = 10$ times the probability of independent assortment.
  • Lod Score = 2 means the probability of linkage is $10^2 = 100$ times the probability of independent assortment.
  • Lod Score = 3 means the probability of linkage is $10^3 = 1000$ times the probability of independent assortment.

Gene Pair Analysis Table

The table provides Lod scores for three different gene pairs:

Gene Pair Lod Score
Gene Pair '1' 1
Gene Pair '2' 2
Gene Pair '3' 3

Evaluating Statements on Linkage

Let's analyze each statement based on the Lod scores and their interpretation:

Statement A: For gene pair 1 the probability of the genes being linked is 10 times more likely than them assorting independently.

  • The Lod score for Gene Pair 1 is 1.
  • The ratio of probabilities (linked vs. independent) is $10^{\text{Lod Score}} = 10^1 = 10$.
  • This means the linked hypothesis is 10 times more likely than independent assortment.
  • Statement A is correct.

Statement B: For gene pair 2, the Lod score 2 indicates that the probability of the genes being linked is twice more likely than assorting independently.

  • The Lod score for Gene Pair 2 is 2.
  • The ratio of probabilities (linked vs. independent) is $10^{\text{Lod Score}} = 10^2 = 100$.
  • This means the linked hypothesis is 100 times more likely than independent assortment, not twice.
  • Statement B is incorrect.

Statement C: The genes of pair 1 and 2, can both be considered as linked, while the genes of pair 3 exhibits independent assortment.

  • Standard interpretation considers a Lod score of 3 or higher as strong evidence for linkage. Scores below 3 are often considered inconclusive or weak evidence.
  • Gene Pair 1 (Lod=1) and Gene Pair 2 (Lod=2) have scores below the conventional threshold for strong linkage evidence. Calling them "linked" based solely on these scores isn't standard practice, although the likelihood of linkage is indeed higher than independent assortment (10x and 100x respectively).
  • Gene Pair 3 has a Lod score of 3, which is strong evidence for linkage. Saying it exhibits independent assortment is incorrect.
  • Statement C is incorrect.

Statement D: The genes of pair 3 can be considered as linked.

  • The Lod score for Gene Pair 3 is 3.
  • According to the standard threshold in genetic linkage analysis, a Lod score of 3 or higher is considered significant evidence to conclude that the genes are linked.
  • Statement D is correct.

Conclusion on Gene Linkage

Based on the analysis of the Lod scores for each gene pair and the standard interpretation rules:

  • Statement A correctly interprets the Lod score of 1 for Gene Pair 1 in terms of probability ratio.
  • Statement B incorrectly interprets the probability ratio for Gene Pair 2.
  • Statement C makes incorrect claims about both Gene Pair 1/2 linkage (based on standard threshold) and Gene Pair 3 independent assortment.
  • Statement D correctly identifies Gene Pair 3 as linked based on its Lod score meeting the standard threshold.

Therefore, statements A and D are correct.

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Important Questions from Human genetics

  1. Mendel selected which of the following traits for his studies?  

  2. Two strains of mice which are genetically identical except for a single genetic locus or region are said to be:

  3. Interacting genes which are involved in producing continuous variation in phenotypes in a population are known as/constitute

  4. Sampling of 200 persons for their ABO blood group was done from an urban area. The types of blood group observed in the given population are as follows:

    A = 60, B = 32, AB = 10 and O = 98

    Which of the following gives the correct frequency of blood group determining alleles IA , IB and IO in the given population?

  5. Columns X and Y of the following table list some treatment methods, reagents, and events that are related to human lymphocyte culture, and banding/ karyotyping of human chromosomes.

    Column X

    Column Y

    A.

    5% barium hydroxide treatment at 50°C

    I.

    R-banding

    B.

    Trypsin treatment

    II.

    C-banding

    C.

    Phytohaemagglutinin

    III.

    Mitotic stimulation

    D.

    Phosphate buffer treatment at 80°C

    IV.

    Nucleolar Organizer Regions (NOR)

    E.

    Silver Staining

    v.

    G-banding

    Which one of the following options represents all correct matches between Column X and Column Y? 

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