Diseases Due To Recessive Allele & Gene Mutation

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Diseases due to recessive allele located on chromosome

1. Haemophilia - Condition in which blood does not clot normally - Lack of protein needed for blood clotting - Caused by a recessive allele found on the X chromosome (Xh) - Probability for a male to suffer from haemophilia is higher than female - Female are mostly carriers 2. Colour blindness - Condition whereby colours cannot be distinguished - Caused by a recessive allele carried on the X chromosome (Xc) 3. Thalassaemia - Childhood disease - Caused by a recessive allele - Affects the haemoglobin in red blood cells - R.B.C are smaller and pale in colour - Because haemoglobin content is less 4. Huntingtons Disease - Caused by a single gene mutation - Causes nerves to degenerate - Brain cells die leading to behavioral changes 5. Cystic Fibrosis - Have abnormally thick and sticky mucus - Harm the lungs - Caused by a recessive allele of a gene

Disease due to gene mutation


1. Sickle-cell anaemia - Mutation on a recessive allele responsible for the production of haemoglobin - Production of abnormal haemoglobin, which crystallises - Causing R.B.C to become sickle shaped or S-shaped 2. Albinism - People who suffered from it are called albinos - Cannot produce enzyme that is responsible for the production of skin pigment, melanin - Have white hair, pinkish eyes and skin that is sensitive to sunlight 3. Polydactylism - Has an extra finger or toe

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