CAJ | 학술논문

目的研究一个继发孔房间隔缺损(ASD)家系同源框转录因子基因CSX/NKX2.5的突变情况.方法收集一个单纯继发孔房间隔缺损家系的临床资料,采用聚合酶链反应及直接测序法对该家系内成员进行CSX/NKX2.5基因突变检测,同时对126名家系外健康对照者的该位点进行单ゥ链构象多态性(SSCP)分析.结果该家系中4例ASD患者均存在CSX/NKX2.5基因的3个杂合突变,且3者均为谷氨酸转换为赖氨酸(GAG-AAG):G270A(Glu32Lys),G378A(Glu68Lys)和G390A(Glu72Lys).而在家系内非患者及正常对照者中均未发现该3者突变.结论在中国人一单纯继发孔房间隔缺损家系中发现的CSX/NKX2.5突变,可能是导致此家系房间隔缺损的重要原因.
목적 연구일개계발공방간격결손(ASD)가계동원광전록인자기인CSX/NKX2.5적돌변정황.방법 수집일개단순계발공방간격결손가계적림상자료,채용취합매련반응급직접측서법대해가계내성원진행CSX/NKX2.5기인돌변검측,동시대126명가계외건강대조자적해위점진행단ゥ련구상다태성(SSCP)분석.결과 해가계중4례ASD환자균존재CSX/NKX2.5기인적3개잡합돌변,차3자균위곡안산전환위뢰안산(GAG-AAG):G270A(Glu32Lys),G378A(Glu68Lys)화G390A(Glu72Lys).이재가계내비환자급정상대조자중균미발현해3자돌변.결론 재중국인일단순계발공방간격결손가계중발현적CSX/NKX2.5돌변,가능시도치차가계방간격결손적중요원인.
Objective To study the gene mutations of homeobox transcription factor (CSX/NKX2.5) associated with a Chinese family with secundum atrial septal defect (ASD). Methods Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD,including 3 ASD patients and 10 non-patients,with the proband from Hunan province;and single strand conformation polymorphism analysis was used to check 126 normal control people for detecting the mutations of CSX/NKX2.5 gene.Results Three heterozygous mutation [G270A (Glu32Lys),G378A (Glu68Lys) and G390A(Glu72Lys)] were identified in the CSX/NKX2.5 gene of the ASD patients.However,the other members in the family with ASD patients and the controls did not have such gene mutations.Conclusion The above mentioned mutations of CSX/NKX2.5 gene identified in a Chinese family may be one of the secundum ASD etiologic causes.