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michgina michgina
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Posts: 31
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11 years ago
Can you give me a few of them and also explain briefly about it?

Thank you.
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wrote...
11 years ago
there are many. basically u are talking about the genetic disease which are inherited from parent to the offsprings. recessive disorders if we talk in detail. here are a few-
1) haemophilia- the family pedigree of queen victoria shows a no. of affected individuals & she was the career. it usually transfers from unaffected mother to sons. in this disease a single protein which is a part of cascade of proteins involved in the blood clotting is affected due to which a simple cut results in excessive bleeding. the possibility of a female being affected is rare because in this case, the mother has to be at least should be career whereas father should be haemophilic.
2) sickle-cell anaemia- this is also an autosomal recessive disease which is transported to the offspring when both the partners are heterozygous. this disease is controlled by just one pair of allele HbA & HbS.this disease results in the replacement of glutamic acid by valine in the 6th position in the beta globin chain of haemoglobin.the mutant haemoglobin chain undergoes change in the shape of R.B.C. from biconcave disc to elongated sickle like structure. NOTE: this patients are resistant to malaria more specifically the malarial infection caused by plasmodium falciperum.
3) phenylketonuria- this inborn disorder is inherited as an austosomal recessive disorder. the affected individual lacks an enzyme phenyl alanine hydroxylase. due to this phenylalanine cant be converted to tyrosine. this slowly starts accumulating in the body. if it accumulates in the brain it results in the mental retardation.
4) albinism- this deficiency is due to the enzyme tyrosinase. due to this disease the various parts of bodies become melanin deficient.
sorry dude there are more but time doesnt permits to give the explaination but let me tell u some more names alkaptunuria, tay-sach disease, thalassemia etc.
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