Structural Variations and Chromosomal Changes

These flashcards cover key concepts related to structural variations and chromosomal changes discussed in the lecture.

Structural Variation

Variations in the structure of chromosomes, including changes in orientation, content, or copy number of DNA.

Ploidy Change

A change in the number of complete sets of chromosomes in a cell.

Deletions

Loss of segments of DNA from a chromosome, which can occur as terminal or interstitial deletions.

Recombination

The process by which genetic materials are mixed during meiosis to form new genetic combinations.

Inversion

A structural variation where a segment of DNA is reversed end to end, potentially altering gene expression.

Translocation

A chromosomal alteration in which a segment of one chromosome is transferred to another chromosome.

Non Homologous Recombination

A type of genetic recombination that occurs between non-homologous chromosomes leading to unequal crossover.

Terminal Deletion

A type of deletion that removes genetic material from the end of a chromosome, often leading to instability.

Interstitial Deletion

A deletion that occurs in the middle of a chromosome, potentially affecting gene function.

Reciprocal Translocation

A balanced translocation where two chromosomes exchange segments, maintaining overall genetic material.

Robertsonian Translocation

A type of translocation involving the fusion of two acrocentric chromosomes resulting in a chromosome with a reduced number of chromosomes.

Gametes

Reproductive cells that carry half the genetic material and are produced through meiosis.

Phenotype

The observable traits or characteristics of an individual, influenced by genetic factors.

Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate properly during cell division, leading to an abnormal number of chromosomes.