Relationship between Pst-I polymorphism of mucin 4 gene and primary hepatolithiasis

Objective To investigate the relationship between Pst-I polymorphism of mucin 4 gene and primary hepatolithiasis in the Chinese population. Methods Venous blood of 96 healthy controls and 56 patients with hepatolithiasis were collected, and DNA was extracted. Polymerase chain reaction combined with restriction enzyme (PCR-RFLP) digestion was used to detect Pst-I polymorphism of mucin 4 gene in the two groups. The genotype and gene frequency between the two groups were then compared. Results The genotype frequencies of GC, GT, TT in the control and the hepatolithiasis groups were 21.3%, 12.7%, 55.6% and 53.2%, 41.2%, 19.8%, respectively. The alleles C and T gene frequencies in the control and the hepatolithiasis groups were 21.5%, 72.7% and 66.3%, 30.2%, respectively. There were significant differences in Pst-I polymorphism of mucin 4 genotype frequency and gene frequency between the two groups. Conclusion The data showed Pst-I polymorphism of mucin 4 gene was associated with primary hepatolithiasis in Chinese patients. Key words: Mucin 4; Pst-I polymorphism; Hepatolithiasis