Imprinting Disorder

Question 1

The transcriptional repression of one allele is the result of ____, i.e. a differential methylation of the two gene copies that is dependent upon the parent of origin of each allele.

Answer 1

imprinting

Question 2

Parental imprinting is the case in _____ & in _____ syndrome, w/c is a fetal overgrowth syndrome w/ minor dysmorphisms & an increased susceptibility to certain tumours including ____.

Answer 2

Angelman and Prader – Willi syndromes; Beckwith – Wiedemann; Wilms tumour

Question 3

T/F. In theory, a female with Prader –Willi syndrome resulting from a paternally inherited deletion affecting the Prader – Willi syndrome/Angelman syndrome critical region on 15q could have a child w/ Angelman syndrome if that child inherited the deletion from her.

Answer 3

True

Question 4

In Beckwith – Wiedemann syndrome, the various molecular disease mechanisms are especially complex, & usually involve the biallelic expression of one or more genes that are normally expressed from a single allele. Two such genes are the ____ gene and the non – translated ____ gene, w/c is a transcriptional inhibitor of other neighbouring genes, including _____.

Answer 4

insulin-like growth factor 2 ( IGF2 ); KCNQ1OT1; cyclin - dependent kinase inhibitor 1C (CDKN1C/p57KIP2 )

Question 5

In Beckwith – Wiedemann syndrome, the important molecular outcome at the protein level is generally the abnormally increased expression of a growth factor, ____, or the abnormally reduced expression of a cell - cycle inhibitor, _____.

Answer 5

growth factor, IGF2; CDKN1C/P57KIP2).