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[A novel stop codon mutation in S gene: the molecular basis of a patient with cryptogenic cirrhosis]
Xu Yang1, Jianhua Lei, Yonghong Zhang
1Liver Diseases Research Center, Xiang ya Second Hospital, Central South University, Changsha 410011, China.
Objective:
To explore the pathogen and molecular basis of cryptogenic cirrhosis in a patient.
Methods:
Serum was collected from a patient, male, aged 56, with cryptogenic cirrhosis. HBV serologic markers were qualitatively tested, and HBsAg, HBeAg, and anti-HBc were quantitatively determined again. HBV DNA in serum was qualitatively tested using PCR, and quantified using fluorescence quantitative PCR. S gene was amplified, cloned, and sequenced.
Results:
HbsAg and anti-Hbe were negative, and anti-HBs, HBeAg, anti-HBc, and HBV DNA were all positive. HBsAg (S/N) was 0.77 (cutoff of S/N: >/= 2.00), HbeAg (S/N) was 56.43 (cutoff of S/N: >/= 2.10), anti-HBc (S/C(O)) was 0.03 (cutoff of S/C(O):
Conclusion:
HBV proves the pathogen of this case. This special mutation well explains the patient's unusual serologic pattern. Moreover, this finding possesses important clinical and theoretical significance.