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  • novel
  • Using the recessive diplotype approach revealed a novel susceptibility hemochromatosis gene and has extended our understanding of the mechanisms involved in iron metabolism. (bloodjournal.org)
  • Sequence analysis of the LPAR6 gene showed a novel insertion resulting in a frameshift and a premature termination (p.I194FfsX11) in affected members of one family. (diva-portal.org)
  • Sequence analysis of the DNA fragment harboring the dominant (susceptible) allele of xa24 suggests that this gene should encode a novel protein that is not homologous to any known R proteins. (semanticscholar.org)
  • deletion
  • Amino acid sequence and structure analysis of the proteins coded by different alleles of gm3 gene showed deletion of eight amino acids due to an early stop codon in RP2068-18-3-5 resulting in a change in the functional domain of the protein. (springer.com)
  • The extent of the deletion suggests that this unique syndrome is related to the complete absence of these genes' products, one of which may be essential for the synthesis of mitochondrial encoded proteins. (mysciencework.com)
  • myopathy
  • We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. (springer.com)
  • genomic
  • Molecular analysis of the chicken TYR gene has revealed a major structural difference (Restriction Fragment Length Polymorphism, RFLP) in the genomic DNA of the recessive white chicken. (biomedcentral.com)
  • Humans
  • Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans. (hindawi.com)
  • sequence
  • Researchers at the National Institutes of Health and other institutions have discovered the third in a sequence of genes that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a genetic condition that weakens bones, results in frequent fractures and is sometimes fatal. (highlighthealth.com)
  • cause
  • Everything else being equal in seems that the gene for blue eyes will slowly spread through out the whole population as it doesn't cause carriers any problems with reproduction and in fact that seems to be what is happening. (biology-online.org)
  • Assuming the above is broadly correct I don't understand how very rare conditions like trimethylaminuria ( http://en.wikipedia.org/wiki/Trimethylaminuria ) which apparently also only affect a single gene, are recessive, and cause no reproductive problems (other than the obvious one) don't spread throughout the whole population? (biology-online.org)
  • genotype
  • Genotype data were obtained from individuals enrolled in the phase 1/2 and phase 3 gene therapy clinical trials at The Children's Hospital of Philadelphia. (arvojournals.org)
  • Resistance Gene
  • The recessive rice gall midge resistance gene, gm3 identified in the rice breeding line RP2068-18-3-5 confers resistance against five of the seven Indian biotypes of the Asian rice gall midge Orseolia oryzae . (springer.com)
  • genetic
  • The gm3del3 was used as a functional marker for introgression of gm3 gene into the genetic background of the elite bacterial blight resistant cultivar Improved Samba Mahsuri (B95-1) through MAS. (springer.com)
  • Fine genetic mapping of xa24, a recessive gene for resistance against Xanthomonas oryzae pv. (semanticscholar.org)
  • Functional
  • The two yeast genes for 3-hydroxy-3-methylglutaryl-coenzymeA (HMG-CoA) reductase, HMGl and HMG2 , each encode a functional isozyme. (genetics.org)
  • fragment
  • A fragment of this gene was amplified with the designed marker, NBcloning 0.9 Kb from the two susceptible TN1, Improved Samba Mahsuri (B95-1) and two resistant cultivars, RP 2068-18-3-5 and Phalguna (with Gm2 gene). (springer.com)
  • susceptible
  • Expression of the candidate NB-ARC gene in the susceptible TN1 and the resistant RP2068-18-3-5 plants following infestation with GMB4 was analyzed, through real-time reverse transcription PCR. (springer.com)
  • hair
  • A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. (semanticscholar.org)