先天性心脏病相关基因研究
摘要
一．先天性心脏病和染色体畸变之间关系的分析
目的：查询分析与先天性心脏病相关的染色体畸变位点。
方法：归纳综合人类细胞遗传学数据库(HCDB)和人类在线孟德尔遗传(Online Mendelian Inheritance in Man，OMIM)数据库中伴有先天性心脏病的染色体畸变位点，利用标准条件从中选择常发生的伴有心脏病的染色体畸变位点，分析先心病和特定染色体畸变之间的关系。
结果：心脏发育的复杂性提示有很多染色体位点参与正常心脏的发育。发现多个染色体畸变，尤其8、22染色体，与特定种类的先天性心脏病的发生相关。
结论：1．目前发现的导致先心病的主要染色体畸变区位于1、3、4、8、11、22染色体上；2．目前所知的12、14、19和X染色体的畸变与先心病的发生没有明确的关系；3．完全性肺静脉畸形引流、心脏反位(Cardiac situs Inversus)、血管环(Vascular ring)、心脏肿瘤、三尖瓣狭窄、单心室、三尖瓣关闭不全、肺动脉瓣关闭不全及主动脉瓣关闭不全等先心病与目前所知的染色体畸变关系不明显。
二．单卵双胎其一患先天性心脏间隔缺损另一正常儿童之间TBX-5基因结构差异的研究
目的：分析单卵双胎其一患先天性室间隔缺损另一正常儿
Congenital Heart Disease Unit, Department of Cardiovascular
Surgery Fu-Wai Cardiovascular Disease Hospital, Chinese Academy
of Medical Science, Beijing, 100037, P. R. of CHINA.
1. Database search of association between chromosome anomalies and congenital heart disease
Objective: To search and analyze chromosome region associated
with congenital heart disease
Methods: The Human Cytogenetics Database (HCDB) and OMIM
was searched for all chromosome anomalies associated with
congenital heart disease. Through application of several criteria we
have selected associations occurring so frequently that they may not
be fortuitous, suggesting assignment of a gene or genes responsible
for specific CHDs to certain chromosome regions.
Results: The complex embryology of the heart suggests the
involvement of numerous chromosome loci in normal
cardiomorphogenesis. There are several chromosome anomalies.
especially chromosome 8, 22 anomalies responsible for certain
CHDs.
Conclusion: 1. Major chromosome anomalies responsible for
congenital heart disease was in chromosome 1, 3, 4, 8, 11, 22;
2. There were no relationship between Abrration Of chromosome
目的：查询分析与先天性心脏病相关的染色体畸变位点。
方法：归纳综合人类细胞遗传学数据库(HCDB)和人类在线孟德尔遗传(Online Mendelian Inheritance in Man，OMIM)数据库中伴有先天性心脏病的染色体畸变位点，利用标准条件从中选择常发生的伴有心脏病的染色体畸变位点，分析先心病和特定染色体畸变之间的关系。
结果：心脏发育的复杂性提示有很多染色体位点参与正常心脏的发育。发现多个染色体畸变，尤其8、22染色体，与特定种类的先天性心脏病的发生相关。
结论：1．目前发现的导致先心病的主要染色体畸变区位于1、3、4、8、11、22染色体上；2．目前所知的12、14、19和X染色体的畸变与先心病的发生没有明确的关系；3．完全性肺静脉畸形引流、心脏反位(Cardiac situs Inversus)、血管环(Vascular ring)、心脏肿瘤、三尖瓣狭窄、单心室、三尖瓣关闭不全、肺动脉瓣关闭不全及主动脉瓣关闭不全等先心病与目前所知的染色体畸变关系不明显。
二．单卵双胎其一患先天性心脏间隔缺损另一正常儿童之间TBX-5基因结构差异的研究
目的：分析单卵双胎其一患先天性室间隔缺损另一正常儿
Congenital Heart Disease Unit, Department of Cardiovascular
Surgery Fu-Wai Cardiovascular Disease Hospital, Chinese Academy
of Medical Science, Beijing, 100037, P. R. of CHINA.
1. Database search of association between chromosome anomalies and congenital heart disease
Objective: To search and analyze chromosome region associated
with congenital heart disease
Methods: The Human Cytogenetics Database (HCDB) and OMIM
was searched for all chromosome anomalies associated with
congenital heart disease. Through application of several criteria we
have selected associations occurring so frequently that they may not
be fortuitous, suggesting assignment of a gene or genes responsible
for specific CHDs to certain chromosome regions.
Results: The complex embryology of the heart suggests the
involvement of numerous chromosome loci in normal
cardiomorphogenesis. There are several chromosome anomalies.
especially chromosome 8, 22 anomalies responsible for certain
CHDs.
Conclusion: 1. Major chromosome anomalies responsible for
congenital heart disease was in chromosome 1, 3, 4, 8, 11, 22;
2. There were no relationship between Abrration Of chromosome
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