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Beckwith-Wiedemann syndrome and genomic imprinting

Zhu Xike

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Abstract

Genomic imprinting is a special hereditary phenomenon out of line with Mendel's law. It is known that the causal gene of Beckwith-Wiedemann syndrome (BWS) is located in 11p15.5 of chromosome where imprinting clusters, that the mechanism of BWS is associated with genomic imprinting, and that the mutation or loss of imprinting (LOI) of p57 KIP2 , IGF2/H19 and LIT1 occurs in patients with BWS. This paper reviews the researches and progress in this field at home and abroad, including the present authors' research. The results of these researches have provided an important basis for the final explanation of the mechanism of BWS and the genetic feature and biological significance of genomic imprinting.

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What this paper is about

Genomic imprinting is a special hereditary phenomenon out of line with Mendel's law. It is known that the causal gene of Beckwith-Wiedemann syndrome (BWS) is located in 11p15.5 of chromosome where imprinting clusters, that the mechanism of BWS is associated with genomic imprinting, and that the mutation or loss of imprinting (LOI) of p57 KIP2 , IGF2/H19 and LIT1 occurs in patients with BWS. This paper reviews the researches and progress in this field at home and abroad, including the present authors' research. The results of these researches have provided an important basis for the final explanation of the mechanism of BWS and the genetic feature and biological significance of genomic imprinting.

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Available abstract

Genomic imprinting is a special hereditary phenomenon out of line with Mendel's law. It is known that the causal gene of Beckwith-Wiedemann syndrome (BWS) is located in 11p15.5 of chromosome where imprinting clusters, that the mechanism of BWS is associated with genomic imprinting, and that the mutation or loss of imprinting (LOI) of p57 KIP2 , IGF2/H19 and LIT1 occurs in patients with BWS. This paper reviews the researches and progress in this field at home and abroad, including the present authors' research. The results of these researches have provided an important basis for the final explanation of the mechanism of BWS and the genetic feature and biological significance of genomic imprinting.

Key concepts: Imprinting (psychology), Beckwith–Wiedemann syndrome, Genomic imprinting, Genetics, Biology, Uniparental disomy, Gene, Chromosome

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