Genetic Testing and Genetic Disorders

A tightly coiled DNA molecule containing genetic information.

The building blocks of life, responsible for traits like hair color, eye color, and disease susceptibility.

The molecule of inheritance, containing instructions for building proteins.

The use of molecular methods to identify genetic disorders, carrier status, or disease risk.

A technique to analyze chromosomes for abnormalities, often used in prenatal testing.

A tool that compares DNA sequences to identify potential disease-causing mutations.

A disorder a person is born with, caused by genetic factors.

Tests performed during pregnancy to assess fetal health and identify potential genetic problems.

A change or mutation in a single gene that can lead to a genetic disorder.

A disorder caused by a dominant gene, meaning only one copy is needed from a parent for the child to inherit it.

A disorder caused by a recessive gene. Both parents must pass on the defective gene for the child to inherit it.

A disorder caused by a defective gene on a sex chromosome, like the X or Y, usually affecting more males than females.

These are inherited disorders caused by changes in multiple genes and environmental factors.

A person who carries a recessive gene for a disorder but does not express it.

A type of genetic disorder where the defective gene is found on the X chromosome.

A disorder where the defective gene is found on the Y chromosome.

Diseases caused by a combination of genetic predisposition and environmental factors.

A disease caused by mutations in mitochondrial DNA, affecting energy production.

A genetic condition caused by inheriting an extra copy of a chromosome.

A genetic test to determine if an individual carries a gene for a specific disease but does not exhibit symptoms.

Genetic testing performed on embryos before implantation during in vitro fertilization.

Genetic testing performed on a fetus during pregnancy to detect potential genetic disorders.

Genetic testing performed on newborns shortly after birth to identify treatable conditions.

A picture of all chromosomes arranged by size and shape that helps identify genetic abnormalities.

This technique involves extracting DNA from a single cell of an 8-cell stage embryo, amplifying it, and testing for specific genetic traits.

This procedure involves extracting amniotic fluid from the pregnant woman's uterus, which contains cells shed by the fetus, allowing for genetic testing.

This involves extracting chorionic villus cells from the placenta, which have the same genetic makeup as the fetus, allowing for genetic testing.

This approach involves extracting DNA from a blood sample and amplifying it using PCR for genetic testing.

This process involves separating DNA fragments based on their size, allowing for the identification of genetic differences.

This involves determining the exact sequence of DNA bases, enabling the identification of mutations or genetic variants.

Involves amplifying a specific DNA segment using a chain reaction, allowing for the creation of numerous copies for analysis.

A process that amplifies specific DNA sequences, making many copies of a target gene.

Tiny variations in the DNA sequence between individuals, like changing a single letter in a word.

Molecular scissors that recognize specific DNA sequences and cut the DNA strands at those locations.

The ends of DNA fragments created by restriction enzymes, which can stick together due to complementary base pairing.

A chemical substance that binds to DNA and protects it from degradation.

A special type of gel used in gel electrophoresis, made from seaweed extract.

Small fragments of DNA with known sizes, used as a reference in gel electrophoresis.

The process of separating DNA from cellular debris by spinning the cell mixture at high speed. Heavier cell components settle at the bottom while DNA remains in the supernatant.

The first step of PCR where the DNA strands are separated by heat, breaking the hydrogen bonds holding them together.

The second step of PCR where short, single-stranded DNA sequences called primers attach to complementary regions on the separated DNA strands.

The third step of PCR where Taq polymerase adds DNA nucleotides to the primer-bound DNA strands, extending them and creating two identical double-stranded DNA molecules.

An enzyme derived from bacteria found in hot springs. Taq polymerase can withstand the high temperatures required for PCR and is essential for DNA replication.

The genetic code, the sequence of nucleotides in DNA that determines an individual's traits. It predicts the phenotype.