OMIA 002351-9103 : Haplotype with homozygous deficiency in Meleagris gallopavo

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Deviation from Mendelian inheritance expectations / transmission ratio distortion identified in the analysis of single nucleotide polymorphism data. Identified haplotypes can indicate the presence of (embryonic) recessive lethal or semi-lethal alleles in a population.

Mapping: Abdalla et al. (2020): “Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) … was characterized in the turkey genome using both allelic (specific‐ and unspecific‐parent TRD) and genotypic (additive‐ and dominance‐TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. …The two methods revealed relevant regions across the turkey genome with either a classical recessive inheritance pattern (i.e. lethal only in the homozygous state) or allelic patterns (i.e. reduced viability of the carrier offspring). …. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals.”


2020 Abdalla, E.A., Id-Lahoucine, S., Cánovas, A., Casellas, J., Schenkel, F.S., Wood, B.J., Baes, C.F. :
Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach. Anim Genet :, 2020. Pubmed reference: 33006154. DOI: 10.1111/age.13003.

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  • Created by Imke Tammen2 on 11 Jun 2021