A Unique Allele Variant at STR Locus D2S1338 in a Paternity Testing Case

Background: The relationship testing through DNA profiling may undesirably be affected by the rare allele variants, tri-allelic pattern and null alleles. Therefore, it is vital to report such anomalies. We report a paternity testing in a sexual assault case studied at Punjab Forensic Science Agency, Lahore Pakistan showing a unique allele variant in mother and child. Methods: DNA was extracted from the buccal swabs of reference samples using organic extraction method and DNA profiling was done for 15 autosomal STRs and amelogenin using Identifiler Plus kit. Results: A novel out of marker range (OMR) allele variant between STR Loci D16S539 and D2S1338 was observed in the DNA profiles of victim (mother) as well as the child. At STR locus D2S1338 Twenty one different allele variant are listed at STRBase ranging from 11 to 28. The allele variant observed in this case study was appeared at less than marker range (< D2S1338) with a size of 297.50 bp. The novel variant OMR allele at D2S1338 was labeled as allele 13, when compared to the other allele in allelic ladder. Moreover, the PFSA DNA database was searched for this unique allelic variation and it was found that this was present in only two other samples of distinct cases. Conclusion: The overall frequency of this unique allele variant was 3 in 10,125 unrelated individuals with frequency of occurrence of 0.0296. According to our limited knowledge it is the first report of a novel OMR allele variant at D2S1338 in Pakistani Population.

Aspergillus fumigatusIn-Host HOG pathway mutation for Cystic Fibrosis Lung Microenvironment Persistence

The prevalence ofAspergillus fumigatuscolonization in individuals with Cystic Fibrosis (CF) and subsequent fungal persistence in the lung is increasingly recognized. However, there is no consensus for clinical management ofA. fumigatusin CF individuals, due largely to uncertainty surroundingA. fumigatusCF pathogenesis and virulence mechanisms. To address this gap in knowledge, a longitudinal series ofA. fumigatusisolates from an individual with CF were collected over 4.5 years. Isolate genotypes were defined with whole genome sequencing that revealed both transitory and persistentA. fumigatusin the lung. Persistent lineage isolates grew most readily in a low oxygen culture environment and conidia were more sensitive to oxidative stress inducing conditions compared to non-persistent isolates. Closely related persistent isolates harbor a unique allele of the high osmolarity glycerol (HOG) pathway mitogen activated protein kinase kinase, Pbs2 (pbs2C2). Data suggest this novelpbs2C2allele arosein vivoand is necessary for the fungal response to osmotic stress in a low oxygen environment through hyperactivation of the HOG (SakA) signaling pathway. Hyperactivation of the HOG pathway throughpbs2C2comes at the cost of decreased conidia stress resistance in the presence of atmospheric oxygen levels. These novel findings shed light on pathoadaptive mechanisms ofA. fumigatusin CF, lay the foundation for identifying persistentA. fumigatusisolates that may require antifungal therapy, and highlight considerations for successful culture of persistent fungal CF isolates.ImportanceAspergillus fumigatusinfection causes a spectrum of clinical manifestations. For individuals with Cystic Fibrosis (CF), Allergic Bronchopulmonary Aspergillosis (ABPA) is an established complication, but there is a growing appreciation forA. fumigatusairway persistence in CF disease progression. There currently is little consensus for clinical management ofA. fumigatuslong-term culture positivity in CF. A better understanding ofA. fumigatuspathogenesis mechanisms in CF is expected to yield insights into when antifungal therapies are warranted. Here, a 4.5-year longitudinal collection ofA. fumigatusisolates identified a persistent lineage that harbors a unique allele of the Pbs2 MAPKK necessary for unique CF-relevant stress phenotypes. Importantly forA. fumigatusCF patient diagnostics, this allele provides increased CF lung fitness at a cost of reducedin vitrogrowth in standard laboratory conditions. These data illustrate a molecular mechanism forA. fumigatusCF lung persistence with implications for diagnostics and antifungal therapy.

A Second Allele of eppA in Borrelia burgdorferi Strain B31 Is Located on the Previously Undetected Circular Plasmid cp9-2

ABSTRACT Although sequence analysis of Borrelia burgdorferiisolate B31 was recently declared “complete,” we found that cultures of this strain can contain a novel 9-kb circular plasmid, cp9-2. The newly described plasmid contains both sequence similarities with and differences from the previously identified B31 plasmid cp9-1 (formerly cp9). cp9-1 and cp9-2 each encode a unique allele of EppA, a putative membrane protein synthesized by B. burgdorferiduring mammalian infection.

Genetic Diversity Evaluations of Threatened Ozark and Allegheny Chinkapin Populations

Chestnut blight, caused by the Asian fungus Cryphonectria parasitica, has severely affected chinkapin populations (Castanea pumila), especially those limited to the Ozark mountains (var. ozarkensis). Genetic diversity within and between geographic populations of the Allegheny (var. pumila) and Ozark chinkapin populations was evaluated for development of appropriate conservation strategies. Nuts or dormant buds collected from populations along the range of the species were analyzed using allozymes. A unique allele was detected in populations along the gulf of Mexico. Significant differences in genetic diversity were observed among Allegheny populations, but not among Ozark populations. High levels of genetic identity were detected among widely distributed populations from Florida to Virginia (Allegheny chinkapin populations) and Arkansas (Ozark chinkapin populations).

FURTHER STUDIES ON GENE POLYMORPHISM IN THE MAINBODY AND GEOGRAPHICALLY ISOLATED POPULATIONS OF DROSOPHILA PSEUDOOBSCURA

ABSTRACT We have examined polymorphism at 22 additional loci in the populations from the mainbody of Drosophila pseudoobscura and an isolated population from Bogotá, Colombia, which also shows partial reproductive isolation from mainbody populations. These studies extend our previous observations of reduced gene polymorphism and apparent lack of unique allele in the Bogotá population.