Question

Discuss one human genetic condition in relation to chromosome structural variation. Your discussion must include: 1: What is the human genetic condition? 2. What type of chromosome structural variation causes this condition?

Answer 1

1.A genetic disorder is a disease that is caused by a change, or mutation, in an individual's DNA sequence. A genetic disorder is an illness caused by changes in a person's DNA.Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance.

2.i)In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome.

Diseases that can be caused by deletion mutation can include 22q11. deletion syndrome, cystic fibrosis, Turner syndrome, and Williams.

ii)Chromosome duplication: Part of a chromosome in duplicate. A particular kind of mutation involving the production of one or more copies of any piece of DNA, including sometimes a gene or even an entire chromosome.A duplication is the opposite of a deletion.

iii)

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: paracentric and pericentric