Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) genecitrullinemianonsense mutationpigpremature stop codonsingle nucleotide polymorphismThe sequencing of the pig genome revealed the existence of homozygous individuals for a nonsense...
4.When a female parent is homozygous for a recessive X- linked trait, she will pass the trait on to 100 percent of her offspring. 5.The cassette can be engineered to deliver additional DNA sequences, and such gene editing results in cells that are homozygous for any desired gene on the...
In addition, both parents of patients VII-1 and VII-4 (family 1) show normal radiographs of the pelvis (fig. 2F). A similar situation, where heterozygotes of the recessive mutations do not exhibit the dominant phenotype, has been observed in brachydactyly type B (BDB [MIM 113000]) and ...
Comparing leukemic patients and healthy individuals with the same ethnic and geographical origin, homozygosity for these genotypes was more frequent in the young leukemic group. The results suggested the existence of recessive deleterious genes in a segment of HLA-DR53 haplotypes. 展开 ...
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics 80, 96–104 (2002). Article CAS PubMed Google Scholar Erler, J.T. et al. Hypoxia-mediated down-regulation of Bid and Bax in tumors occurs via hypoxia-...
A recessive locus harbouring several genes and a large novel, intergenic deletion was identified for the full manifestation of the trait. Exome sequencing did not show any gene mutation that could potentially contribute to this very rare phenotype. MATERIALS AND METHODS Participants In all, 17 ...
What is the genotype of a cross between homozygous dominant and homozygous recessive parents? What is the genotype of a homozygous individual for eye color, using B as the allele descriptor? Which allele is expressed in the dominant homozygous, heterozygous and homozygous recessive genotypes? What ...
In humans, the complete loss of Asm activity in subjects exhibiting autosomally recessive SMPD1 mutations results in Niemann-Pick disease type-A, characterized by neurodegeneration of the cerebral and cerebellar cortex, basal ganglia, brain stem and spinal cord with ataxia, dysarthria and dysphagia [...
Cattle breeding populations are susceptible to the propagation of recessive diseases. Individual sires generate tens of thousands of progeny via artificial insemination. The frequency of deleterious alleles carried by such sires may increase considerably
Crigler-Najjar syndrome is a rare autosomal recessive disease caused by mutations in the UGT1A1 gene. These mutations result in the deficiency of UGT1A1, a hepatic enzyme essential for bilirubin conjugation. This report describes the case of a 4-month-old boy with the cardinal symptoms of Crig...