A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.

@article{Wu2008AHM,
  title={A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.},
  author={Jian-xin Wu and Guang Yu Cheng and Jian Huang},
  journal={Journal of digestive diseases},
  year={2008},
  volume={9 2},
  pages={89-94}
}
OBJECTIVE To investigate the family genetic background of a 22-year-old man with Crigler-Najjar syndrome type II (CN-II). METHODS After the proband (patient) with CN-II was diagnosed by liver function tests, a low calorie intake test and an oral phenobarbital enzyme-induction trial, blood samples were collected from 11 family members for identifying DNA gene groups. Exons 1-5 of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and mutations of the UGT1A1 gene were screened by… CONTINUE READING