OBJECTIVETo explore the UL139 gene polymorphism of human cytomegalovirus (HCMV), and the relationship between polymorphisms of HCMV UL139 ORF and Hirschsprung's disease (HD).

METHODSForty-three specimens of the aganglionic intestinal segment and 6 urine samples of HD infants were amplified by nested polymerase chain reaction (PCR) method. The amplicons were sequenced in both strands directly. The control group consisted of 10 asymptomatic HCMV infected infants, and their urine specimens were also analyzed using the same method.

RESULTSHCMV UL139 genes of 28 clinical strains from HD 1 patients were successfully amplified and sequenced. UL139 was hypervariable and was clustered into 3 major groups and 5 genotypes. The predominant genotype of HCMV in HD infants was UL139 Group 3 (48 percent). Comparison of strains distribution between the two groups did not reach statistical significance using chi square test (chi square=7.378, P=0.194). The results of correlation analysis between UL139 and UL144 genes showed a p value 0.05 by Kendall test. Clinically, strains from the rectosigmoid segment, total colon aganglionosis, and long-segment were distributed sporadically in UL139 genotypes.

CONCLUSIONUL139 gene displayed polymorphisms. No linkage was found between UL139 genotype and clinical phenotype of HD. There was no correlation between HCMV UL144 and UL139.