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PRINCIPLES OF INHERITANCE AND VARIATION (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule. The substitution of amino acid in the globin protein results due to the single base substitution at the sixth codon of thebetaglobingenefromGAGtoGUG.Themutanthaemoglobinmolecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to elongated sickle like structure (Figure 4.15). Phenylketonuria : This inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its poor absorption by kidney. Thalassemia : This is also an autosome-linked recessive blood disease transmitted from parents to the offspring when both the partners are unaffected carrier for the gene (or heterozygous). The defect could be due to either mutation or deletion which ultimately results in reduced rate of synthesis of one of the globin chains (α and β chains) that make up haemoglobin. This causes the formation of abnormal haemoglobin molecules resulting into anaemia which is characteristic of the disease. Thalassemiacanbeclassifiedaccordingtowhichchainofthehaemoglobin molecule is affected. In α Thalassemia, production of α globin chain is affected while in β Thalassemia, production of β globin chain is affected. α Thalassemia is controlled by two closely linked genes HBA1 and HBA2 on chromosome 16 of each parent and it is observed due to mutation or deletion of one or more of the four genes. The more genes affected, the less alpha globin molecules produced. While β Thalassemia is controlled by a single gene HBB on chromosome 11 of each parent and occurs due to mutation of one or both the genes. Thalassemia differs from sickle-cell anaemia in that the former is a quantitative problem of synthesising too few globin molecules while the latter is a qualitative problem of synthesising an incorrectly functioning globin. 4.8.3 Chromosomal Disorders The chromosomal disorders on the other hand are caused due to absence or excess or abnormal arrangement of one or more chromosomes. Failure of segregation of chromatids during cell division cycle results in the gain or loss of a chromosome(s), called aneuploidy. For example, Down’s syndrome results in the gain of extra copy of chromosome 21. Similarly, Turner’s syndrome results due to loss of an X chromosome in human females. Failure of cytokinesis after telophase stage of cell division results in an increase in a whole set of chromosomes in an organism and, 75 this phenomenon is known as polyploidy. This condition is often seen in plants. The total number of chromosomes in a normal human cell is 46 (23 pairs). Out of these 22 pairs are autosomes and one pair of chromosomes are sex chromosome. Sometimes, though rarely, either an additional copy of a chromosome may be included in an individual or an Reprint 2026-27