郑州大学学报（医学版）2012，Vol.47Issue(5)：639-642,4.DOI:10.3969/j.issn.1671-6825.2012.05.015
血友病B家系的基因测序与高危胎儿的产前诊断
Genetic diagnosis of haemophilia B pedigrees and prenatal diagnosis of high-risk fetus by DNA sequencing
摘要
Abstract
Aim: To identify the mutations of factor Ⅸ( F9 ) gene and provide prenatal diagnosis in three pedigrees with haemophilia B ( HB ). Methods: Eight coding exons of F9 gene in patients with HB and the relative family members were amplified by PCR. The products were further analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis or by chorionic villus sampling after the genotypes of the probands and female carriers were identified. Re-sults:Different mutations of F9 gene were detected in each pedigree, including G79R ( c. 10487G > A ), 17788DelG and IVS2 +4A > T ( c. 6493A > T ). It was the first time that 17788DelG was reported worldwide. Heterozygous double peaks at the same position were found in female carriers. In pedigrees 1 and 2, the male fetuses were not found mutation of F9 gene, and the female fetus in pedigree 3 was heterozygous carrier of IVS2 +4A > T. Conclusion:These three types of mutation of F9 gene may be the pathologic cause of the three pedigrees with HB. Direct sequencing of F9 gene is a rapid method to provide genetic counseling, prenatal diagnosis and carriers screening for HB.关键词
血友病B/凝血因子Ⅸ基因/突变/产前诊断Key words
haemophilia B/ factor Ⅸ gene/ mutation/ prenatal diagnosis分类
医药卫生引用本文复制引用
吴庆华,史惠蓉,鲁宁,江淼,赵振华,孔祥东..血友病B家系的基因测序与高危胎儿的产前诊断[J].郑州大学学报（医学版）,2012,47(5):639-642,4.基金项目
河南省卫生科技中青年科技创新人才基金资助项目 201011 （）
