Thursday, March 11, 2021

Genomic imprinting and Trinucleotide repeat -EXTRA EDGE

Hello Awesomites! 

1.Genomic imprinting IOC = methylation specific MLPA 

2.Trinucleotide repeat disorder = IOC is Trinucleotide primed PCR 

3.Fragile X Syndrome is XLR (mendelian inheritance) but once inherited during gametogenesis what happens is non - mendelian inheritance.

Confusing but thats the beauty. 

Can you tell me about Huntington disease what does mendelian and non mendelian inheritance mean? 

4.Angelman  that undergo whatever you learn (like maternal deletion and unipaternal disomy) involve chromosome 15 but gene is UBE3 ubiquitin protein. 

And praderwilli whatever you learn happens at chromosome 15 but gene is Sn RPN (small nuclear ribonucleoprotein polypeptide N)

 Hope it broadens your horizon.

-Dr.Upasana Y. 

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