Mouse Anti Xenopus E-cadherin Hybridoma [9D3]

Background: Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins. Methods: We analyzed the DNA from members of 2 consanguineous Pakistani families with HJMD for mutations in the P-cadherin gene through direct sequencing. Results: We identified 2 splice site mutations in the P-cadherin gene in these families. One was a novel mutation, Ivs12-2A -> G and the other a recurrent mutation, Ivs10-1G -> T. A screening assay for the novel mutation ruled out the possibility of a polymorphism. Using haplotype analysis, we determined that the mutation, Ivs10-1G -> T, is a founder mutation in the Pakistani population. Conclusion: We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome. Copyright (C) 2010 S. Karger AG, Basel

Stable isotope measurements are increasingly utilized to constrain global budgets of atmospheric trace gases, Published analytical techniques for studying the parallel stable isotopic composition of methane (delta(13)C and delta D) require prohibitively large quantities of methane for analysis, In a break from convention, a static mass spectrometer has been developed to use aliquots of methane as the analyte, These measurements yield the relative abundances (delta(17)M, parts per thousand) of the major isotopomers of methane ((CH4+)-C-13 and (CDH3+)-C-12) with (CH4+)-C-12. Analyses of 0.5 nmol samples of NGS standards have shown that delta(17)M can be determined with a precision of +/-0.2 parts per thousand. If the delta(13)C of the sample is known then delta D may be calculated from the measured delta(17)M. Calculations show that a precision of 0.2 parts per thousand for delta(17)M is equivalent to measuring delta D with a precision of +/-3.6 parts per thousand (cf, +/-2-3 parts per thousand by conventional means), Where delta(13)C is not known, then delta(17)M still provides useful information on methane sources, in effect combining delta(13)C and delta D.