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Question
Give an example of a human disorder that is caused due to a single gene mutation.
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Solution
Sickle-cell anaemia is a human genetic disorder caused by a single gene mutation. In sickle-cell anaemia, glutamic acid (Glu) at the 6th position of beta globin chain (of haemoglobin molecule) is replaced by valine (Val).
RELATED QUESTIONS
Read the following statements and select the correct option.
i. Genetic disorders are broadly categorised as, Mendelian disorders and chromosomal disorders.
ii. Mendelian disorders are caused due to absence or excess of one or more chromosomes or their abnormal arrangement.
iii. Chromosomal disorders are mainly caused due to alteration or mutation in the gene.
Which of the following characteristics are observed in a person suffering from Turner syndrome?
Identify I and II in the given diagram of chromosome.
Match Column I with Column II and select the correct option:
| Column I | Column II | ||
| p. | Pleiotropy | I. | More than two alleles occur at the same locus on homologous chromosomes |
| q. | Multiple alleles | II. | Expression of both the alleles m heterozygous condition |
| r. | Polygenic | III. | Multiple effect of single gene |
| s. | Co-dominance | IV. | Single phenotypic character influenced by more than two genes |
Identify the genetic disorder m which an individual has an overall masculine development, gynaecomastia and is sterile.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
A woman with albinic father marries an albinic man. The proportion of her progeny is ______.
Genes for cytoplasmic male sterility in plants are generally located in ______.
Mental retardation in man associated with sex chromosomal abnormality is usually due to ______.
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
