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目的探讨亲代GATA4基因变异对子代先天性心脏病发病的影响。方法收集137例先天性心脏病患者父/母作为病例组,例正常新生儿父/母为对照组,对GATA4全部编码链进行PCR扩增,DHPLC检测并对异常峰型进行测序114分析,Chromas软件比对发现异常序列变异。结果在1例法洛四联症患者父亲基因组DNA发现GATA4基因错义突变,c.-487C>T。导致163位密码子由CCG转换为CTG,编码的氨基酸由脯氨酸转换为丝氨酸P163S(p.Pro163Ser),这个突变对照组未检测到,患者父亲心脏发育正常。发现同义突变c.-99G>T,两个内含子区域突变S50745A>T和S50946A>C,在对照组和病例组均存在,两组比较差异没有显著性。结论先天性心脏病患者父代也可能存在GATA4基因突变影响子代发病。
Objective To investigate the effect of parental GATA4 gene mutation on the incidence of congenital heart disease in offsprings. Methods A total of 137 cases of congenital heart disease were collected from the parents as the case group. The normal neonatal parent was taken as the control group. All the coding sequences of GATA4 were amplified by PCR, sequenced by DHPLC and sequenced. Chromas Software alignment found abnormal sequence variation. Results A missense mutation in GATA4 gene was found in the genomic DNA of a father with tetralogy of Fallot, c.-487C> T. Resulting in the conversion of codon 163 from CCG to CTG and the translation of the encoded amino acid from proline to serine P163S (p.Pro163Ser). This mutation was not detected in the control group and the patient’s father had normal cardiac development. Found synonymous mutations c.-99G> T, two intron region mutations S50745A> T and S50946A> C, both in the control group and the case group, no significant difference between the two groups. Conclusions The GATA4 gene mutation may also affect the offspring incidence in the parents of congenital heart disease patients.