Kalvi.NEET

Pedigree Analysis

பெடிகிரி பகுப்பாய்வு

NCERT Class 12 · Principles of Inheritance and Variation · 7 NEET questions

Most students fail Pedigree Analysis because they guess instead of applying Mendelian logic. A single shaded square in a pedigree is not just a shape; it is a genotype waiting to be decoded. If you cannot identify the mode of inheritance in under 30 seconds, you are losing marks to speed, not just knowledge.

The idea

Pedigree analysis is the systematic study of trait inheritance across multiple generations. By using standardized symbols, we map the transmission of specific alleles through a family tree. It is the primary tool for determining if a trait is autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive. Precision in observing the phenotype of parents and offspring is mandatory for accurate analysis.

Why it matters

Since controlled crosses are not possible in humans, pedigree analysis serves as a vital tool to understand the inheritance patterns of genetic disorders.

NEET lens

NEET expects you to distinguish between X-linked and Autosomal traits instantly. Look for 'criss-cross' inheritance patterns to identify X-linked traits. Never assume a trait is dominant just because it appears in every generation; check for skipped generations to confirm recessive traits. Memorize the standard symbols: square for male, circle for female, and shaded for affected individuals.

Clinical significance

This analysis is vital for diagnosing genetic disorders like Myotonic Dystrophy, Sickle Cell Anemia, and Hemophilia. It allows clinicians to predict the probability of a child inheriting a lethal mutation. Without it, genetic counseling for high-risk families would be impossible.

Introduction

Pedigree analysis is a technique in genetics that uses family history data displayed as a pedigree chart (circles = females, squares = males, shaded = affected, horizontal line = mating, vertical line = offspring) to determine the inheritance pattern of a genetic trait.

Core concept

Symbols: Circle = female. Square = male. Filled = affected. Half-filled = carrier. Horizontal line between couple = mating/marriage. Vertical line = offspring. Double line = consanguineous marriage. Roman numerals = generations (I, II, III...). Arabic numerals = individuals within a generation. Determining inheritance pattern: Autosomal dominant: every generation affected (vertical transmission), affected father can pass to son (no sex bias), unaffected parents rarely have affected child. Autosomal recessive: may skip generations, parents of affected may be carriers (unaffected), consanguineous marriages increase risk, both sexes equally affected. X-linked recessive: more males affected, carrier females unaffected, no father-to-son transmission (fathers give Y to sons), affected father → all daughters carriers. X-linked dominant: more females affected (or similar), no father-to-son transmission of disease. Y-linked: only males affected, father → ALL sons (holandric).

Go deeper

Carrier detection from pedigree: if two unaffected parents have an affected child (autosomal recessive) → both parents must be carriers (Aa × Aa → 1/4 aa). Use Bayesian analysis for more complex pedigrees. X-linked key clue: if trait transmitted through daughters (normal), expresses in sons → classic X-linked recessive pattern (hemizygous expression in males).

From Class 10

Pedigree analysis is the study of a family's history of a genetic disease across generations using a family tree (pedigree chart) to determine the pattern of inheritance.

Previous year NEET questions (7)

  1. NEET 2022

    Which of the following occurs due to the presence of autosome linked dominant trait?

    1. Haemophilia
    2. Thalassemia
    3. Sickle cell anaemia
    4. Myotonic dystrophy
    Show answer

    Answer: (D) Myotonic dystrophy

  2. NEET 2022

    If a colour blind female marries a man whose mother was also colour blind, what are the chances of her progeny having colour blindness?

    1. 75%
    2. 100%
    3. 25%
    4. 50%
    Show answer

    Answer: (B) 100%

  3. NEET 2018

    A woman has an X-linked condition on one of her X chromosomes. This chromosome can be inherited by

    1. Only grandchildren
    2. Only sons
    3. Only daughters
    4. Both sons and daughters
    Show answer

    Answer: (D) Both sons and daughters

  4. NEET 2016

    Pick out the correct statements: a. Haemophilia is a sex-linked recessive disease. b. Down's syndrome is due to aneuploidy. c. Phenylketonuria is an autosomal recessive gene disorder. d. Sickle cell anaemia is an X- linked recessive gene disorder.

    1. a, c and d are correct.
    2. a, b and c are correct.
    3. a and d are correct.
    4. b and d are correct.
    Show answer

    Answer: (B) a, b and c are correct.

  5. NEET 2016

    If a colour-blind man marries a woman who is homozygous for normal colour vision, the probability of their son being colour-blind is

    1. 1
    2. 0
    3. 0.5
    4. 0.75
    Show answer

    Answer: (B) 0

  6. NEET 2015

    In the following human pedigree, the filled symbols represent the affected individuals. Identify the type of given pedigree.

    1. X-linked dominant
    2. Autosomal dominant
    3. X-linked recessive
    4. Autosomal recessive
    Show answer

    Answer: (B) Autosomal dominant

  7. NEET 2015

    A colour blind man marries a woman with normal sight who has no history of colour blindness in her family. What is the probability of their grandson being colour blind?

    1. 0.25
    2. 0.5
    3. 1
    4. Nil
    Show answer

    Answer: (A) 0.25

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