Question

In: Biology

if there is a deletion in the imprinting control region (ICR) of a gene in the...

if there is a deletion in the imprinting control region (ICR) of a gene in the parent chromosome, will that be passed on to the offspring?

This has me confused because, I know that in blastocyst, the chromosomes get de-methylated and re-methylated.

Solutions

Expert Solution

yes, it can be passed.

Eg. Prader-Willi/Angelman disorders

The first classic case of a human disorder in which genomic imprinting was perceived was Prader-Willi syndrome (PWS). PWS is a neuro-degenrataive disorder that was first portrayed by Prader, Labhart, and Willi in 1956. It happens in one of every 10,000 to 20,000 people. An expected 350,000 to 400,000 individuals have this disorder around the world. PWS by and large happens sporadically and is portrayed - by juvenile hypotonia, early youth beginning of corpulence, short stature for the family foundation, little hands and feet, hypogenitalism/hypogonadism, mental lack, and a trademark facial appearance including restricted bifrontal width, short upturned nose, triangular mouth, almond-molded eyes, and sticky saliva.

In around 70% of patients with PWS, an in a paternally derived denovo interstitial DNA deletion of around 3 million to 4 million base sets happens in the chromosome 15q11-q13 locale. The staying 30% of people with PWS have either maternal disomy 15 (the two 15s from the mother in around 25% of patients) or submicroscopic deletion named imprinting mutation. The repeat hazard is by and large low (<1%), yet in uncommon occasions, the father may have acquired an engraving transformation of chromosome 15 from his mom, and if this is passed to his offspring, the danger of having a kid with PWS would be half.


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