Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

Author: Kotzot, D

Source: Clinical Genetics, Volume 60, Number 3, September 2001 , pp. 226-231(6)

Publisher: Blackwell Publishing

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Abstract:

The results of molecular investigations of 21 cases with complete or segmental maternal uniparental disomy (UPD) 14 published in the literature were compared with respect to isodisomic and heterodisomic segments. The aim of the study was to find hints toward imprinted regions other than the recently defined imprinted segment 14q32. Three regions with no isodisomic molecular marker were found. The most distal of these regions located on 14q32.12 and 14q32.13 supports the hypothesis of genomic imprinting as the cause of the maternal UPD 14 phenotype by synteny to the maternally imprinted region on mouse distal chromosome 12 and correlation with the recently defined imprinting cluster on human chromosome 14q32. The other two heterodisomic areas located on 14q11.2→14q12 and 14q21.1→14q31.2 are hints toward one or more additional regions of genomic imprinting on human chromosome 14.

Keywords: genomic imprinting; heterodisomy; isodisomy; maternal uniparental disomy 14

Document Type: Research article

DOI: 10.1034/j.1399-0004.2001.600309.x

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