General Science Bullet – Disorders in the human body – Capsule 1
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What is a Disorder?
It is any abnormality that arises in the human body due to the deficiency or absence of a gene/ hormone/vital function or due to external factors, thereby resulting in impaired function or structure.
Types of disorders
Disorders can be of four types depending on the factors that cause them. listed below are types of disorders:
- Sex – linked genetic disorders
- Autosomal genetic disorders
- Autoimmune disorders
- Lifestyle disorders
Sex Linked genetic disorders
- A disorder caused by the abnormality of a gene located on the sex chromosome (X or Y).
- Generally the sex-linked disorders and mutations (permanent alteration of the genes) are linked to the X chromosome since the X chromosome has more functional genes compared to the Y chromosome.
- Males have X (from mother) and Y (from father) chromosome while females have XX chromosome, one inherited from each parent.
- Since, males have only one X chromosome, they are at a higher risk for expression of sex-linked traits. However, females rarely inherit two defective X chromosomes and thus expression of sex-linked disorders in females is a rare phenomenon.
- Also, if a female has one defective X chromosome and the other normal X chromosome, she will act as a carrier for the disorder i.e. her offspring/ child may be at a 50% risk.
- X – linked disorders are of two types: X – linked dominant and X – linked recessive disorders.
- X – linked dominant disorders require presence of only one defective X chromosome. Thus it can equally affect males and females. Eg. Fragile X chromosome and X-linked hypophosphatemic rickets.
- X – linked recessive disorders require presence of two defective X chromosomes. These disorders are rare in females but always affect males (since they have only one X – chromosome). Eg. Haemophilia, Colour blindness
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