ABSTRACT
Haemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. Identifi cation of mutations contributing to defective factor IX may be advantageous for precise carrier and prenatal diagnosis. We studied 16 patients from 11 families, consisting of 8 patients of the Malay ethnic group, of which 6 were siblings. Factor IX mutations have not been previously reported in the Malay ethnic group. The functional region of the factor IX gene was sequenced and mutations were identifi ed in either the exon or intronic regions in 15 of the patients. One novel mutation, 6660_6664delTTCTT was identifi ed in siblings with moderate form of haemophilia B. Mutations identifi ed in our patients when linked with disease severity were similar to fi ndings in other populations. In summary, this preliminary data will be used to build a Malaysian mutation database which would facilitate genetic counseling.
ABSTRACT
Background: Ribosomal proteins are traditionally associated with protein biosynthesis until recent studies that implicated their extraribosomal functions in human diseases and cancers. Our previous studies using GeneFishingTM DEG method and microarray revealed underexpression of three ribosomal protein genes, RPS26, RPS27, and RPL32 in cancer of the nasopharynx. Herein, we investigated the expression pattern and nucleotide sequence integrity of these genes in nasopharyngeal carcinoma to further delineate their involvement in tumourigenesis. The relationship of expression level with clinicopathologic factors was also statistically studied. Methods: Quantitative Polymerase Chain Reaction was performed on nasopharyngeal carcinoma and their paired normal tissues. Expression and sequence of these three genes were analysed. Results: All three ribosomal protein genes showed no significant difference in transcript expressions and no association could be established with clinicopathologic factors studied. No nucleotide aberrancy was detected in the coding regions of these genes. Conclusion: There is no early evidence to substantiate possible involvement of RPS26, RPS27, and RPL32 genes in NPC tumourigenesis.
ABSTRACT
The 2009 pandemic infl uenza A(H1N1) was fi rst detected in Malaysia in May 2009. It quickly spread in the general population and contributed to a number of infl uenza-like illness. The objective of the study is to characterize genetic changes in early Malaysian isolates of mild and severe illness of the novel infl uenza, and to compare sequences of viruses circulating in Malaysia to those in other countries between May to September 2009. Viral isolates of 56 mild cases and 10 severe (intensive care unit or fatal) cases were sequenced for haemagglutinin (HA) and neuraminidase (NA). Genome sequencing of the viral RNA was conducted on 5 isolates (3 were from fatal cases). Highly conserved sequences with few sporadic variations were identifi ed in HA and NA. E374K and D222N were identifi ed in 2 viral isolates from patients with severe illness. Phylogenetic analysis showed close genetic relatedness to the vaccine strain A/California/07/09 and other isolates circulating worldwide during the same period. Sporadic variations were identifi ed in the viral isolates, however a larger sample size is required to make associations with disease severity.
ABSTRACT
The retinoblastoma-related gene Rb2/p130 has been reported to be mutated in several malignancies such as lung cancer and Burkitt's lymphoma. Nasopharyngeal carcinoma (NPC) is a common cancer in Malaysia especially amongst the ethnic Chinese. We screened for Rb2/p130 gene (exons 19 to 21) mutations in 53 archival NPC samples via PCR-SSCP-direct sequencing approach. Only one sample had a base change which involved a serine to glycine substitution at codon 995 (S995G). We conclude that Rb2/p130 genetic alterations are infrequent in NPC and may not be essential for the pathogenesis of the disease.