write short note on monogenic disorders
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These disorders are the result of a single defective gene on the autosomes. They are inherited according to Mendel's Laws (Mendelian disorders). The mutation can be spontaneous and where there is no previous family history. Inheritance patterns can be autosomal dominant, autosomal recessive or X-linked recessive. For many conditions there may even be different mutations in the gene which can cause disease, for example, in cystic fibrosis there are over 200 possible mutations in the gene but they mostly produce the same disease pattern.
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These disorders are the result of a single defective gene on the autosomes. They are inherited according to Mendel's Laws (Mendelian disorders). The mutation can be spontaneous and where there is no previous family history. Inheritance patterns can be autosomal dominant, autosomal recessive or X-linked recessive. For many conditions there may even be different mutations in the gene which can cause disease, for example, in cystic fibrosis there are over 200 possible mutations in the gene but they mostly produce the same disease pattern.
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1.Sudden change or mutation occuring in a normal gene , turn it into a defective gene. the defective gene cause momgencie disorders.
2. there are approximately 4000 different monogenic disorders.
3. Every gene has a sequence to synthesize a definite product such as an enzyme but the defective gene cannot do so.
4. Due to this condition some metabolic reaction does not occur in the body and unwanted toxic substances may accumulated within .
5. this abonoru metabolism may lead to death at a tender age.
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