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Paediatric

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Genetic Disorders

Question
16 out of 49
 

The process underlying differences in expression of a gene, according to which parent has transmitted, is called- (AIIMS May 2014)



A Anticipation
B Masaicism

C Non-penetrance
D Genomic imprinting

Ans. D

Genomic imprinting

There are functional differences between paternal and maternal genes. So the expression of gene will be different ' depending on, whether it has transmitted by father or mother. This is called genomic imprinting (also see previous explanations).

Anticipation

o In genetics, anticipation is a phenomenon where by the symptoms of a genetic disorder become apparent at age earlier age as it is passed to next generation.

o In most cases, an increased severity of sympioms is also noted.

o Anticipation is se en in trinucleotide repeat disorders, e.g. huntigton's disease, myotonic dystrophy, Fragile 'X' syndrome and Friedreich ataxia.

Mosaicism

o Mosaicism is the occurence of two or more different types of cell populations in the same individuals.

o For example same individual have cells having 45X and 47, XXX i.e. 45 X / 47 XXX mosaic.

Nonpenetrance

o Some individuals inherit the mutant gene but are phenotypically normal. This is referred as nonpenetrance.

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