Mendel’s Law of Independent Assortment.

The law states that

‘when two pairs of traits are combined in a hybrid, segregation of one pair

of characters is independent of the other pair of characters’.

Sex Determination
Both in humans and

in Drosophila, the female has a pair of

XX chromosomes (homogametic) and the

male XY (heterogametic) composition;

(c) In many birds, female has a pair of

dissimilar chromosomes ZW and male

two similar ZZ chromosomes

Grasshoppeer – male have only one X- chromosome besides the autosomes, whereas females have a
pair of X-chromosoes.
Mendelian Disorders-
Determined by alteration or mutation in the single gene
e.g. Haemophilia, Cystic fibrosis, Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalassemia etc

Haemophlia – a single protein that is part of the cascade of proteins involved in the clotting of blood is
affected. The possibility of a female becoming haemopphlic is extremely rare. In an affected individual a
simple cut will result in non-stop bleeding.
Sickle-cell anaemia- autosome linked recessive trait that can be transmitted from parents to the
offspring when both the partners are carrier for the gene. The disease is controlled by a single pair of
allel, HbA and HbS. Out of three only HbSHbs show diseased phenotype. Defect caused by the
substitution of Glutamic acid by Valine at the sixth position of beta globin chain of haemoglobin. Shape
of RBC from biconcave disc to elongated sickle like structure.

Phenylketonuria – autosomal recessive trait. The affected

individual lacks an enzyme that converts the amino acid
phenylanine into tyrosine. Thus accumulation of phenylanine
and converted to phenylpyruvic acid, collection in brain
results in mental retardation.

Chromosomal Disorders
Caused due to absence or excess or abnormal arrangement of one or more chromosomes.
Failures of segregation of chromatids during cell division cycle results in gain or loss of a chromosome
called aneuploidy. Failure of cytokinesis after telophase stage of cell division results in an increase in a
whole set of chromosomes in an organism and called polyploidy.

Down’s syndrome- presence of an additional copy of chromosome number 21(trisomy of 21).

Langdon Down.
Klinefelter’s Syndrome – due to presence of an additional copy of X-chromosome. Such an individual has
overall masculine development, however the feminie development(development of breast i.e.
Gynaecomastia) Such individuals are sterile.

Turner’s Syndrome – absence of one of the X chromosomes. Such females are sterile as ovaries are
rudimentary besiseds features including lack of other secondary sexual charactesrs