Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle
Confirmed by phenotypic records, several studies across different breeds in different locations have linked missing homozygous pattern with several defects in the functional system and recessive genetic disorders. Recessive genetic diseases are expressed when the recessive alleles appear in a homozy...
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| Format: | Article |
| Language: | English |
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Mendel University Press
2019-01-01
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| Series: | Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis |
| Subjects: | |
| Online Access: | https://acta.mendelu.cz/67/5/1183/ |
| _version_ | 1811289953804484608 |
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| author | Maulana Naji Cord Drögemüller Gábor Mészáros Johann Sölkner |
| author_facet | Maulana Naji Cord Drögemüller Gábor Mészáros Johann Sölkner |
| author_sort | Maulana Naji |
| collection | DOAJ |
| description | Confirmed by phenotypic records, several studies across different breeds in different locations have linked missing homozygous pattern with several defects in the functional system and recessive genetic disorders. Recessive genetic diseases are expressed when the recessive alleles appear in a homozygous state for an individual. One of the indicators to detect the recessive allele is through haplotypes, which have a normal frequency in the population, but never occur in the homozygous state. In this study, we used SNP genotypes of 220 Austrian Tyrol Grey cattle and 80 Italian Tyrol Grey cattle to identify the haplotype blocks (Hapblocks) that possibly carry genes causing recessive disorders. Hapblocks with missing homozygous state in the population were statistically tested as to whether this is very unlikely in Hardy-Weinberg equilibrium. Eight out of all hapblocks passing the threshold had functional genes which are crucial in maintaining the metabolism, production, reproduction, and health of the individuals. These hapblocks had a high frequency of above 13% but never appear in homozygous state. Thus, these are foreseen as potential source of genetic defects. Our finding in this analysis can be used as a reference for further study in haplotype analyses of inherited recessive disease for other cattle breeds. |
| first_indexed | 2024-04-13T04:04:27Z |
| format | Article |
| id | doaj.art-4ce0f3e9636841c3beffb06f176e2769 |
| institution | Directory Open Access Journal |
| issn | 1211-8516 2464-8310 |
| language | English |
| last_indexed | 2024-04-13T04:04:27Z |
| publishDate | 2019-01-01 |
| publisher | Mendel University Press |
| record_format | Article |
| series | Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis |
| spelling | doaj.art-4ce0f3e9636841c3beffb06f176e27692022-12-22T03:03:23ZengMendel University PressActa Universitatis Agriculturae et Silviculturae Mendelianae Brunensis1211-85162464-83102019-01-016751183118810.11118/actaun201967051183Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey CattleMaulana Naji0Cord Drögemüller1Gábor Mészáros2Johann Sölkner3Division of Livestock Sciences, Department of Sustainable Agricultural Systems, University of Natural Resources and Life Sciences, Gregor-Mendel-Str. 33, A-1180 Vienna, AustriaInstitute of Genetics, Vetsuisse faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, SwitzerlandDivision of Livestock Sciences, Department of Sustainable Agricultural Systems, University of Natural Resources and Life Sciences, Gregor-Mendel-Str. 33, A-1180 Vienna, AustriaDivision of Livestock Sciences, Department of Sustainable Agricultural Systems, University of Natural Resources and Life Sciences, Gregor-Mendel-Str. 33, A-1180 Vienna, AustriaConfirmed by phenotypic records, several studies across different breeds in different locations have linked missing homozygous pattern with several defects in the functional system and recessive genetic disorders. Recessive genetic diseases are expressed when the recessive alleles appear in a homozygous state for an individual. One of the indicators to detect the recessive allele is through haplotypes, which have a normal frequency in the population, but never occur in the homozygous state. In this study, we used SNP genotypes of 220 Austrian Tyrol Grey cattle and 80 Italian Tyrol Grey cattle to identify the haplotype blocks (Hapblocks) that possibly carry genes causing recessive disorders. Hapblocks with missing homozygous state in the population were statistically tested as to whether this is very unlikely in Hardy-Weinberg equilibrium. Eight out of all hapblocks passing the threshold had functional genes which are crucial in maintaining the metabolism, production, reproduction, and health of the individuals. These hapblocks had a high frequency of above 13% but never appear in homozygous state. Thus, these are foreseen as potential source of genetic defects. Our finding in this analysis can be used as a reference for further study in haplotype analyses of inherited recessive disease for other cattle breeds.https://acta.mendelu.cz/67/5/1183/recessive diseasehaplotypemissing homozygousTyrol Grey cattle |
| spellingShingle | Maulana Naji Cord Drögemüller Gábor Mészáros Johann Sölkner Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis recessive disease haplotype missing homozygous Tyrol Grey cattle |
| title | Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle |
| title_full | Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle |
| title_fullStr | Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle |
| title_full_unstemmed | Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle |
| title_short | Deviation Patterns of Observed and Expected Haplotype Blocks Associated with Potential Recessive Disorders in Tyrol Grey Cattle |
| title_sort | deviation patterns of observed and expected haplotype blocks associated with potential recessive disorders in tyrol grey cattle |
| topic | recessive disease haplotype missing homozygous Tyrol Grey cattle |
| url | https://acta.mendelu.cz/67/5/1183/ |
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