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Genetic Change: Chromosomal and Genetic Disorders, Lecture notes of Family and Consumer Science

Family and Consumer Science

A concise overview of genetic change, focusing on chromosomal and genetic disorders. It explains various types of chromosomal abnormalities, including nondisjunction, deletion, duplication, translocation, and inversion, and provides examples of associated syndromes. The document also covers point mutations, insertions, and deletions, highlighting their impact on genetic disorders. It concludes with links to resources for further information on rare chromosomal disorders.

Typology: Lecture notes

2024/2025

Uploaded on 02/15/2025

shaina-garibay 🇸🇬

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Genetic Change

G.Burgess

2012

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Genetic ChangeGenetic Change

G.Burgess 2012

Chromosomal Dissorders

(^) Nondisjunction
(^) Deletion
(^) Duplication
(^) Translocation
(^) Inversion Genetic Dissorders
(^) Point mutation
(^) Insertion
(^) Deletion
(^) Splice site mutation
(^) Nonsense mutation
(^) Silent mutation
(^) Missense mutation

Deletion

(^) When a part of a chromosome is lost during cell division
(^) Example
- (^) Cri du Chat: occurs with a deletion of part of chromosome 5.

Duplication

(^) if a DNA fragment joins the homologous chromosome and that region is repeated
(^) Example
- (^) Fragile X

Point Mutations

(^) Single base substitutions
- (^) may occur as a single nucleotide base is replaced by other base.
(^) Examples:
- (^) Cystic fibrosis
- (^) Cancer
- (^) Sickle cell anemia
- (^) Tay sachs disease
- (^) Colour blindness

Insertion/ deletion

(^) Addition or subtraction of nucleotide base(s) from a chromosome
(^) Example
- (^) Huntington`s Disease.