Mutations

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Questions and Answers

What is the primary purpose of karyotyping?

To diagnose chromosomal aberrations

What is the role of hypotonic solutions in the karyotyping process?

Swelling, separating, and spreading chromosomes

What is the difference between Q-banding and G-banding techniques?

Q-banding uses fluorescent stain to stain AT-rich regions, while G-banding uses Giemsa stain to stain AT-rich regions

What is the significance of centromere position in karyotyping?

To determine the type of centromere (telocentric, acrocentric, submetacentric, or metacentric) Signup and view all the answers

What is the purpose of ideograms in karyotyping?

To make it easier to interpret and modernize karyotyping Signup and view all the answers

What is the difference between haploid and diploid?

Haploid has a single set of chromosomes, while diploid has two homologous copies of each chromosome Signup and view all the answers

What is polyploidy, and how does it occur?

Polyploidy is having a multiple of the normal haploid number; it occurs when more than one sperm fertilizes an egg Signup and view all the answers

What is aneuploidy, and how does it differ from polyploidy?

Aneuploidy is the presence of an abnormal number of chromosomes; it differs from polyploidy, which involves a multiple of the normal haploid number Signup and view all the answers

What is the result of a failure of the first zygotic division in an embryo?

Tetraploidy Signup and view all the answers

What is the term for the complete loss of a chromosomal pair, and what is the consequence of this condition in early embryogenesis?

Nullisomy; Lethal Signup and view all the answers

What is the genetic condition characterized by the presence of a single X chromosome instead of the usual XX, and what is the name of this condition?

Turner syndrome Signup and view all the answers

What is the method used to rapidly screen for aneuploidy in an embryo before implantation, and at which stage of the cell cycle is it performed?

FISH; Interphase Signup and view all the answers

What is the consequence of a single base substitution that alters the codon to produce an altered amino acid in the protein product?

Missense mutation Signup and view all the answers

What is the consequence of a single base substitution that changes a codon to one of the stop codons, resulting in premature termination of protein synthesis?

Nonsense mutation Signup and view all the answers

What is the term for the insertion or deletion of one or two base pairs, and what is the consequence of this type of mutation?

Indel; Frameshift mutation Signup and view all the answers

What is the consequence of a frameshift mutation, and how can it lead to premature termination of protein synthesis?

Frameshift mutations often create new stop codons, resulting in nonsense mutations. Signup and view all the answers

What is the method used for automated karyotyping, and what advantage does it offer over traditional karyotyping methods?

Spectral karyotyping; Less time-consuming Signup and view all the answers

what is triploidy?

<ul> <li>One complete extra set of chromosomes. happens when more than 1 sperm fertilises the egg</li> </ul> Signup and view all the answers

what is Monosomy?

<ul> <li>When one of the chromosome pair is missing.</li> </ul> Signup and view all the answers

what is Trisomy?

<ul> <li>Addition of extra copy of one chromosome.</li> </ul> Signup and view all the answers

example of genetic condition

turner syndrome where there is only one X instead of XX Signup and view all the answers

Flashcards

Aneuploidy

A condition where an individual has an abnormal number of chromosomes.

Nullisomy

A complete loss of one chromosome pair.