Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.

The diagnosis of glycogen storage disease (GSD) type IX is often complicated by the complexity of the phosphorylase kinase enzyme (PHK), and molecular analysis is the preferred way to provide definitive diagnosis. Here we reported two novel mutations found in two GSD type IX patients with different residual enzyme activities from Hong Kong, China using genetic analysis and, provided the molecular interpretation of the deficient PHK activity. These two newly described mutations would be useful for the study of future GSD patients.

An unusual cluster of HIV-1 B/F recombinants in an Asian population.

We report the detection of multiple HIV strains in injection drug users (IDU) in Macao, which appear to be derived from subtypes F, G, and CRF12_BF. A total of 14 HIV-infected IDU samples were collected and examined. Direct sequencing was performed to obtain the gag, pol, and env fragments. The subtypes of individual viral sequences were determined using the REGA subtyping tool. The concatenated sequences were aligned with reference sequences retrieved from the Los Alamos National Laboratory HIV database. We found 11 unusual cases in Macao, which showed characteristics of CRF12_BF (n=2) and CRF14_BG (n=8), and one that could not be classified into an existing subtype/CRF, along with three cases of CRF01_AE. Interestingly, the sequences derived from subtypes BG and BF recombinants have not been previously reported in any other Asian cities. Another subtype, CRF14_BG, has also been introduced into Macao among the IDUs. In conclusion, human activity, including travel over long distances and injection drug usage have fueled the spread of HIV and have provided a platform for recombination, which may otherwise have taken years to happen.