Imprinting and deviation from Mendelian transmission ratios

作者: Anna K Naumova , Celia MT Greenwood , Kenneth Morgan

DOI: 10.1139/G01-013

关键词: OffspringAlleleInsulin-like growth factor 2 receptorMendelian inheritanceTransmission ratioBiologyHuman genomeGenomic imprintingGeneticsImprinting (psychology)

摘要: Deviations from a Mendelian 1:1 transmission ratio have been observed in human and mouse chromosomes. With few exceptions, the underlying mechanism of transmission-ratio distortion remains obscure. We tested hypothesis that grandparental-origin dependent is related to imprinting possibly results loss embryos which carry imprinted genes with marks incorrectly reset. analyzed alleles four regions genome presumably critical for normal embryonic growth development: 11p15.5 (H19, IGF2, HASH2, etc.), 11p13 (WT1), 7p11-12 (GRB10), 6q25-q27 (IGF2R), among offspring 31 three-generation Centre d'Etude de polymorphism Humain (CEPH) families. expected ratios were found maternal chromosomes 11p15.5, 11p13, 6q25-27 paternal 11p15 7p11-p12. The likelihood was assessed empi...

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