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Effect of Genetic Disorders – Disease and Causes

Aug 26, 2022


Mutation is the change in a gene or a chromosome that causes a change in a phenotypic character. 

Mutation is caused either by loss or gain or change in a single base pair of DNA 

  • In addition to recombination, the mutation is another phenomenon that leads to variation in DNA. 
  • Loss (deletion) or gain (insertion/duplication) of a segment of DNA results in alteration in chromosomes. 
  • Chromosomal aberrations are observed in cancerous cells. 
  • Mutations also arise due to change in a single base pair of DNA. This is known as a point mutation. E.g., Sickle cell anemia. 
  • Deletion and insertions of base pairs of DNA cause frame shift mutations. 

Pedigree Analysis 

The representation or chart showing family history is called pedigree analysis  

  • In the pedigree analysis, the inheritance of a particular trait is represented in the family tree over generations. 

In human genetics, the pedigree study is utilized to trace the inheritance of a specific trait, abnormality or disease. Some of the important standard symbols used in the pedigree analysis are shown in fig. no. 1.  

Fig. No. 1.1:  

Mendelian Disorders 

  • Broadly, genetic disorders may be grouped into two categories – Mendelian disorders and chromosomal disorders.  

Mendelian disorders are caused by alteration or mutation in a single gene.  

  • These disorders are transmitted to the offspring on the same lines as we studied in the principle of inheritance.  
  • The pattern of inheritance of such Mendelian disorders can be traced in a family by the pedigree analysis.  

Mendelian disorders may be dominant or recessive.  

  • Most common and prevalent Mendelian disorders are hemophilia, cystic fibrosis, sickle-cell anemia, color blindness, phenylketonuria, thalassemia, etc.  


In this disease, a single protein is a part of the cascade of proteins involved in the clotting of blood is affected. Due to this, in an affected individual, a simple cut will result in non-stop bleeding. 

  • Sex-linked recessive disease. 
  • The disease is transmitted from unaffected female carrier to some of the male progeny. 
  • Female becoming hemophilic is extremely rare because the mother of such a female should be a carrier, and the father should be hemophilic. 
  • The affected person transmits the disease only to the son, not to the daughter. 
  • Daughter can receive the disease from both mother and father. 

Sickle-Cell Anemia 

This is an autosome linked recessive trait.  

This disease is transmitted from parents to the offspring when both partners are carriers for the gene.  

  • The defect is caused due to substitution of glutamic acid (Glu) by valine (Val) at the sixth position of the beta-globin chain of the hemoglobin molecule. 
  • Substitution of amino acid takes place due to the single base substitution at the sixth codon of the beta globin gene from GAG to GUG. 
  • The mutant hemoglobin molecule undergoes polymerization under low oxygen tension causing the change in the shape of the RBC from biconcave disc to an elongated sickle-like structure. 
  • This disease is controlled by a single pair of alleles, HbA and HbS. 
  • There are three possible genotypes (HbA HbA, HbA HbS, and HbSHbS. 
  • Only homozygous individuals for HbS (HbS HbS) show the diseased phenotype. 
  • Heterozygous (HbA HbS) individuals appear apparently unaffected, but they are carrier of the disease as there is a 50 percent probability of transmission of the mutant gene to the progeny. 
Sickle cell anemia 

Chromosomal Disorders 

  • 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 chromosome(s), called aneuploidy. 
  • Failure of cytokinesis after the telophase stage of cell division results in an increase in a whole set of chromosomes in an organism, and this phenomenon is called polyploidy. 
  • Trisomy: additional copy of a chromosome may be included in an individual (2n + 1).          Monosomy: an individual may lack one of any one pair of chromosomes (2n – 1). 
Fig. no. 1.3

Down Syndrome 

  • Caused due to the presence of an additional copy of chromosome number 21 (trisomy of 21). 
  • This disorder was first described by Langdon Down (1866). 
  • Short stature with a small round head. With furrowed tongue.  
  • Partially opened mouth. 
  • Palm is broad with a characteristic palm crease. 
  • Physical, psychomotor and mental development is retarded. 


  • Caused due to the presence of an additional copy of X-chromosome, resulting in a karyotype of 47, (44+XXY).  
  • Overall masculine development. 
  • Also develop feminine character (Development of breast, i.e., gynecomastia) 
  • Individuals are sterile. 


  • Sudden inheritable change in DNA sequence and change in genotype and phenotype of an
    organism is called a mutation.
  • It is either by loss or gain or change in DNA sequence.
  • Pedigree analysis is a representation chart of the family history.
  • Genetic disorder is a disease that is caused due to abnormalities in an individual’s DNA.
  • Genetic disorders are categorized into two ~ Mendelian disorder and chromosomal
  • Mendelian disorder – hemophilia occurs due to deficiency of plasma thromboplastin
    during which the exposed blood does not clot.
  • Sickle cell anemia ~ it is a blood disease during which the RBC become sickle shape as
    ‘compared to the normal RBC.
  • Chromosomal disorder are of two types -autosomal chromosomal changes and sex
    chromosomal changes.
  • Down syndrome – (trisomy of 21) syndrome is characterized by a round face, broad neck,
    folded eyelids, low IQ etc.
  • Klinefelter syndrome – this disorder is caused due to the presence of an additional copy
    of X chromosome that is with karyotype of 47 chromosomes; such development may
    resulting feminine development (development of breast, is observed).


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