mash
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Achondroplasia has a high mutation rate. This is most likely the result of
Paternal age effect
Maternal age effect
Large gene size
Methylated CG dinucleotide
None of the above
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| rida
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Methylated CG dinucleotide, but not sure, could be none of the above
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| mash
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yeah , its Methylated CG dinucleotide.
but i read somewhere dat paternal age too has an effect..........
but im not sure....
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| rida
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Actually i read the same thing on a website that it could have been paternal age....
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| mash
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??
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| mash
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I think ans should be advanced paternal age........
More than 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as a result of a de novo gene mutation.
De novo gene mutations are associated with advanced paternal age, often defined as >35 years [Penrose 1955 , Stoll et al 1982]. Studies have demonstrated that de novo gene mutations are exclusively inherited from the father [Wilkin et al 1998]. These mutations appear to result from de novo events during spermatogenesis in the unaffected father rather than from germline mosaicism in the father.
The remaining 20% of individuals with achondroplasia have one or two affected parents.
Mutation analysis. More than 99% of patients with achondroplasia have one of two mutations in FGFR3. In about 98% of patients, the mutation is a Gly380Arg substitution, resulting from a G to A point mutation at nucleotide 1138 of the FGFR3 gene [Shiang et al 1994 , Bellus et al 1995 , Rousseau et al 1996]. About 1% of patients have a G to C point mutation at nucleotide 1138.
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| Malaysian
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Can the answer be large gene size???The larger the gene size the more the chances of mutations occuring??
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