Study on Gene Mutations of Factor IX Gene of Chinese Hemophilia B Patients

DNA sequence of 2.2kb of factor IX gene from each of 27 cases of Hemophilia B patients living in Jiangsu, Hubei, Shandong, Guangdong, Fujian and Ningxia provinces was studied by using the PCR (Polymerase Chain Reaction) and GAWTS (Genomic Amplification with Transcript Sequencing) techniques. Twenty different mutations were found in 21 patients. Twelve of them were not reported before. Eight occured in CpG dinucleotide (38%) that was a hot spot of germ line mutations in Caucasian. No geographic specificity was found between 6 provinces. Six carriers were identified. Some advantages of the methodology were discussed.

DNA sequence of 2.2kb of factor IX gene from each of 27 cases of Hemophilia B patients living in Jiangsu, Hubei, Shandong, Guangdong, Fujian and Ningxia provinces was studied by using the PCR (Polymerase Chain Reaction) and GAWTS (Genomic Amplification with Transcript Sequencing) techniques. Twenty different mutations were found in 21 patients. Twelve of them were not reported before. Eight occurred in CpG dinucleotide (38%) that was a hot spot of germ line mutations in Caucasian. No geographic specificity was found between 6 provinces. Six carriers were identified. Some advantages of the methodology were discussed.