摘要
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。
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/NKX25 gene identified in a Chinese family may be one of the secundum ASD etiologic causes.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2008年第4期250-253,共4页
National Medical Journal of China
关键词
房间隔缺损
同源框转录因子
基因突变
Secundum atirial septal defect
Homeobox transcription factor
Gene mutation
