(a) Mutation changes the DNA sequence → altered codon → altered amino acid → changed protein structure → changed phenotype.
Principles of Inheritance and Variation
(b) Mitochondria are maternally inherited; mutation in male parent is not transmitted to progeny.
(b) Woman is carrier (X^c X); sons: 50% colour blind (X^c Y) and 50% normal (XY).
(b) All daughters affected by father's disease = X-linked dominant (daughters get father's X).
(d) Down syndrome: trisomy 21 (47 chromosomes).
(d) According to Lyon hypothesis, either X chromosome (paternal or maternal) is inactivated at random.
(c) Gynandromorphs have a mosaic of male and female characteristics.
(c) In humans, the Y chromosome carries the SRY gene that determines male sex; in Drosophila sex is determined by X:autosome ratio.
(a) Point mutations are minor changes at the gene level — single base pair alterations.
(b) Klinefelter syndrome (47,XXY): phenotypically male with small testes, infertility, gynecomastia.