نتایج جستجو برای: autozygosity
تعداد نتایج: 143 فیلتر نتایج به سال:
To the Editor: Naturally occurring human knockouts have greatly expanded our understanding of the medical relevance of genes, or lack thereof (1). Indeed, while biallelic inactivation of genes can result in severe Mendelian disorders, other genes seem to be toleratedwhen knocked out (2). We have been studying embryonic lethality as an extreme Mendelian phenotypic consequence of human knockout e...
The use of relatively low numbers of sires in cattle breeding programs, particularly on those for carcass and weight traits in Nellore beef cattle (Bos indicus) in Brazil, has always raised concerns about inbreeding, which affects conservation of genetic resources and sustainability of this breed. Here, we investigated the distribution of autozygosity levels based on runs of homozygosity (ROH) ...
Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence of unknown ancestral consanguinity, we identified two autozygous intervals, comprising 34 Mbps, unique to a single c...
Under a climate change perspective, the genetic make-up of local livestock breeds showing adaptive traits should be explored and preserved as priority. We used genotype data from ovine 50 k Illumina BeadChip for assessing breed autozygosity based on runs homozygosity (ROH) fine-scale structure detecting genomic regions under selection in 63 Tunisian sheep samples. The average inbreeding coeffic...
the hereditary ataxias are a group of genetically defined neurological diseases which are characterized by heterogeneous clinical presentations. ataxia is defined as imbalance and lack of coordination. mental retardation associated with ataxia has been reported in some of the known and recently identified syndromes. in this review, we describe some known and novel genes that cause familial ment...
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