In the context of recent advances in human reproductive technology, "Pronuclear Transfer" is used for

Updated 11 Apr 2026 · From UPSC Prelims GS Paper I 2020, Q96

Contents12
UPSC Prelims GS2020Science and Technology
  1. Afertilization of egg in vitro by the donor sperm
  2. Bgenetic modification of sperm producing cells
  3. Cdevelopment of stem cells into functional embryos
  4. Dprevention of mitochondrial diseases in offspring
Show answer

Answer: (D) prevention of mitochondrial diseases in offspring

Pronuclear Transfer is a technique used to prevent mitochondrial diseases from being passed from mother to child.

Here's how it works in simple terms:

Every cell has two types of DNA — nuclear DNA (from both parents) and mitochondrial DNA (only from the mother).

Some mothers carry defective mitochondrial DNA that causes serious diseases.

Pronuclear transfer solves this by:

  1. Fertilizing the mother's egg with the father's sperm (creating a zygote with the parents' nuclear DNA but defective mitochondrial DNA).
  2. Separately fertilizing a healthy donor woman's egg with the father's sperm.
  3. Removing the nuclear DNA from the donor's fertilized egg (keeping only the healthy mitochondria).
  4. Transferring the parents' nuclear DNA into the donor's egg.

Result: The baby has nuclear DNA from both parents (so it looks like them) but healthy mitochondrial DNA from the donor.

This prevents mitochondrial diseases.

The baby essentially has genetic material from three people — sometimes called "three-parent babies."

Answer: D (Prevention of mitochondrial diseases in offspring).

Key Takeaway: Pronuclear Transfer = preventing mitochondrial diseases = three-parent baby technique.

Why this was asked

Pronuclear transfer creates 'three-parent babies' by replacing defective mitochondrial DNA from the mother with healthy mitochondrial DNA from a donor while preserving both parents' nuclear DNA.

The UK became the first country to legalize three-parent IVF techniques in 2015, making mitochondrial replacement therapy a significant international biotechnology development that UPSC began testing.

UPSC is testing whether students can distinguish between different reproductive technologies - fertilization techniques versus genetic disease prevention methods.

Pronuclear Transfer

Science And Technology Pronuclear Transfer

Pronuclear Transfer: Three-Parent Baby Technique

Must know

Pronuclear Transfer prevents mitochondrial diseases from mother to child

Creates three-parent babies with nuclear DNA from parents + healthy mitochondrial DNA from donor

Good to know

Also called Mitochondrial Replacement Therapy (MRT)

First successful case reported in 2016

Pronuclear Transfer is a reproductive technique that prevents serious mitochondrial diseases from being passed from mother to child. The procedure creates embryos with genetic material from three people — earning the nickname 'three-parent babies'.

How Pronuclear Transfer Works

%%{init: {"flowchart": {"wrappingWidth": 460}}}%%
flowchart TD
  s1["`**Fertilization**
Mother's egg fertilized with father's sperm (contains defective mitochondrial DNA)`"]
  s2["`**Donor Preparation**
Healthy donor woman's egg fertilized with father's sperm`"]
  s3["`**Nuclear DNA Removal**
Nuclear DNA removed from donor's fertilized egg, keeping only healthy mitochondria`"]
  s4["`**Transfer**
Parents' nuclear DNA transferred into donor's egg with healthy mitochondria`"]
  s5["`**Result**
Baby has parents' nuclear DNA + donor's healthy mitochondrial DNA`"]
  s1 --> s2
  s2 --> s3
  s3 --> s4
  s4 --> s5

DNA Sources in Pronuclear Transfer

DNA Type

Source

Percentage

Function

Nuclear DNA

Both parents

~99.9%

Physical traits, personality, intelligence

Mitochondrial DNA

Healthy donor

~0.1%

Cellular energy production

This technique directly answers the question by preventing mitochondrial diseases in offspring — not fertilization (Option A), sperm modification (Option B), or stem cell development (Option C).

Exam traps

Trap: Option A sounds like IVF, but pronuclear transfer goes beyond simple fertilization

Trap: Option B mentions genetic modification, but it's not about altering sperm cells

Trap: Option C involves stem cells, but this technique works with fertilized eggs, not stem cell conversion

Mitochondrial Diseases

Science And Technology mitochondrial diseases

Mitochondrial Diseases: Maternal Inheritance Pattern

Must know

Mitochondrial diseases pass only from mother to children

Affect cellular energy production leading to organ failure

Good to know

Examples: Leigh syndrome, MELAS, Leber hereditary optic neuropathy

Cannot be treated by conventional gene therapy

Mitochondrial diseases result from defects in mitochondrial DNA (mtDNA), which is inherited exclusively from the mother. Unlike nuclear DNA, mitochondria have their own small genome that controls energy production in cells.

Key Characteristics

Maternal inheritance: Father's mitochondria are eliminated during fertilization

Energy deficiency: Affects high-energy organs like brain, heart, muscles

Progressive symptoms: Worsen over time as cellular energy decreases

No nuclear gene therapy: Cannot be fixed by modifying nuclear DNA

Common Mitochondrial Diseases

Disease

Primary Symptoms

Organs Affected

Severity

Leigh Syndrome

Developmental delays, seizures

Brain, nervous system

Severe

MELAS

Stroke-like episodes, dementia

Brain, muscles

Progressive

Leber Neuropathy

Vision loss

Optic nerves

Moderate

Exam traps

Trap: These diseases follow maternal inheritance, not Mendelian patterns

Trap: Mitochondrial DNA is separate from nuclear DNA — different inheritance rules

Three-Parent Baby Technology

Science And Technology three-parent babies

Three-Parent Baby Technology: Scientific & Ethical Aspects

Must know

Baby receives genetic material from three people: mother, father, and mitochondrial donor

UK was first country to legalize this technique

Good to know

Donor contributes only 0.1% of total genetic material

Alternative technique: Maternal Spindle Transfer

The term 'three-parent babies' refers to children born through mitochondrial replacement therapy. Despite the name, the donor contributes only mitochondrial DNA — less than 0.1% of total genetic material.

Genetic Contributions

# Three-Parent Baby
## Mother
- Nuclear DNA (49.95%)
- Physical traits
- Genetic diseases risk
## Father
- Nuclear DNA (49.95%)
- Y chromosome
- Physical traits
## Donor
- Mitochondrial DNA (0.1%)
- Cellular energy
- Disease prevention

Mitochondrial Replacement Techniques

Technique

When Performed

Process

Success Rate

Pronuclear Transfer

After fertilization

Transfer nuclear DNA between fertilized eggs

Higher

Maternal Spindle Transfer

Before fertilization

Transfer nuclear DNA between unfertilized eggs

Lower

Exam traps

Trap: Despite 'three parents', donor contributes minimal genetic material

Trap: Different from surrogacy — genetic modification, not just carrying pregnancy

Assisted Reproductive Technology

Science And Technology fertilization of egg in vitro

Assisted Reproductive Technology: Modern Techniques

Must know

IVF is fertilization outside the body in laboratory conditions

ICSI injects single sperm directly into egg

Good to know

PGD screens embryos for genetic diseases before implantation

Success rates vary by age and technique

Assisted Reproductive Technology (ART) includes all fertility treatments where eggs or embryos are handled outside the body. These techniques help couples overcome various fertility challenges.

Major ART Techniques

Technique

Full Name

Process

Used For

IVF

In Vitro Fertilization

Egg + sperm fertilized in lab

Blocked tubes, low sperm count

ICSI

Intracytoplasmic Sperm Injection

Single sperm injected into egg

Severe male infertility

PGD

Preimplantation Genetic Diagnosis

Genetic screening of embryos

Hereditary diseases

Pronuclear Transfer

Mitochondrial Replacement

Three-parent technique

Mitochondrial diseases

ART Applications

# Assisted Reproductive Technology
## Infertility Treatment
- IVF
- ICSI
- Surrogacy
## Disease Prevention
- PGD
- Pronuclear Transfer
- Genetic Screening
## Research
- Stem Cell Studies
- Embryo Research
- Fertility Enhancement
Exam traps

Trap: Option A describes basic IVF, not the specialized pronuclear transfer

Trap: All ART involves lab fertilization — the key is why pronuclear transfer is used