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A. Mesut Erzurumluoglu Muslim M. Alsaadi Santiago Rodriguez Tahani S. Alotaibi Philip A. I. Guthrie Sian Lewis Aasiya Ginwalla Tom R. Gaunt Khalid K. Alharbi Fahad M. Alsaif Basma M. Alsaadi Ian N. M. Day 《PloS one》2015,10(3)
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study. Using this information, a proxy molecular diagnosis was made on the PLS affected siblings after consent was given to study this second disorder found to be segregating within the family. The prevalence of the mutation was then assayed in the local population using a representative sample of 256 unrelated individuals. The variant was absent in all subjects indicating that the variant is rare in Saudi Arabia. This family study illustrates how whole-exome sequencing can generate findings and inferences beyond its primary goal. 相似文献
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Fifty-two-day old plants of a salt tolerant line, S24 and a salt sensitive, Yecora Rojo were subjected for 15 days to 125
mol·m−3 NaCl in Hoagland’s nutrient solution under glass-house conditions. The dry matter of shoots and roots of the salt tolerant
line was significantly greater over all time intervals in saline substrate than the salt sensitive line, Yecora Rojo. In the
leaves of salt-treated former line concentration of Na+ and Cl− was lower as compared to the latter line. The lower Na+ and Cl− concentrations in the leaves of S24 were found to be associated with lower transport of these ions to the shoots whereas
the reverse was true for Yecora Rojo. The lines did not differ in accumulation of either ion in roots. It is concluded that
salt tolerance in these two genotypes of spring wheat is associated with restricted accumulation of toxic Na+ and Cl− ions to the shoots or with restricted transport. 相似文献
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