dear editor analysis of the phenylalanine hydroxylase (pah mckusick 261600) gene in different populations has revealed more than 320 different mutations associated with phenylketonuria (pku). one of these mutations, ivs10nt546, results in severe pah deficiency due to defective mrna splicing. it accounts for about 40 percent of all mutant alleles in turkish and between 10 to 20 percent of all mu...

Pooled sequencing can be a cost-effective approach to disease variant discovery, but its applicability in association studies remains unclear. We compare sequence enrichment methods coupled to next-generation sequencing in non-indexed pools of 1, 2, 10, 20 and 50 individuals and assess their ability to discover variants and to estimate their allele frequencies. We find that pooled resequencing ...

Recent technical advances allow straightforward access to genetic information directly drawn from DNA. The present article highlights the suitability of high variation molecular genetic markers, such as microsatellites, for studies relevant to amphibian conservation. Molecular markers appear particularly useful for i) measuring local gene flow and migration, ii) assigning individuals to their m...

Angiotensin converting enzyme (ACE; OMIM: 106180) has an important role in the conversion of angiotensin I to angiotensin II and degradation of bradykinin. Genetic polymorphism I/D (rs4646994) in the gene encoding ACE has been well defined. To get more insight into the genetic structure of Iranian populations, the distribution of the ACE I/D polymorphism among Iranians was compared with each ot...

Significance The ability to control damaging plant pests and vectors of animal disease is threatened by the emergence insecticide resistance. Developing effective strategies prevent, slow, or overcome resistance requires an understanding underlying genetic mechanisms. Here, we present example evolution arising from transposable element–mediated disruption a dominant insecticide-susceptible alle...