Abnormal HLA-G expression occurs in various diseases such as melanoma, renal cell carcinoma, asthma, and classic Hodgkin’s lymphoma. The purpose of this study was to determine whether HLA-G gene is linked with oral squamous cell carcinoma (OSCC). To investigate the possible link with susceptibility to OSCC, 54 OSCC patients and 120 healthy controls were enrolled in this study. HLA-G 14bp insertion/deletion polymorphism is in 3'-untranslated region of HLA-G gene. HLA-G 14bp insertion/deletion polymorphism was analyzed using the polymerase chain reaction (PCR) method. For the analysis of genetic data, SPSS18.0 program was used. Logistic regression models were performed for odds ratio (OR), 95 percent confidence interval (CI), and p value. There was a significant difference in distribution allele between OSCC patients and control subjects (OR=0.018, 95% CI=0.002- 0.131, p<0.001). Our results suggest that HLA-G 14bp insertion/deletion polymorphism may be linked with susceptibility to OSCC in the Korean population.

Transgenic chickens have been spotlighted as an highly potent bioreactor for their fecundity, short generation time, and eggs associated with mass production of protein. In this study, we generated transgenic chickens exhibiting oviduct specific expression of human growth hormone fused to human transferrin for oral administration. Gene of the modified growth hormone located at downstream ovalbumin promoter (∼3.6 kb) was introduced to stage X blastodermal cell employing retrovirus vector system. Several transgenic chickens were successfully generated. However, genomic analyses showed unexpected deletion within the transgene. The modification of the transgene seemed to occur during germ cell formation because the deletion was detected only from the sperm DNA of the G0 founder animal. There was no evidence of deletion in the somatic cell DNA samples of the same chicken. Consequently, same pattern of the deletion was confirmed in both somatic and germ cells of the G1 progeny.

Xp21 contiguous gene deletion syndrome involves the glycerol kinase (GK) gene, adrenal hypoplasia congenital (AHC) gene and Duchenne's muscular dystrophy (DMD) gene, which are located contiguously on Xp21 chromosome. The clinical features of a patient with Xp21 contiguous gene deletion syndrome are the sum of those of each disease; psychomotor retardation and lethargy for GK deficiency, hyperpigmentation and salt wasting dehydration for AHC, and muscular weakness and hypotonia for DMD. Chromosomal microarray analysis is performed for confirmation of Xp21 contiguous gene deletion syndrome. The goal of treatment is to control each of the diseases. We experienced and reported on a neonatal case of Xp21 contiguous gene deletion syndrome of AHC, GK deficiency, and DMD.