[Preliminary exploration of transcription factor Nkx2.5 mutations and congenital heart diseases].
OBJECTIVE
To explore the association between the gene mutation of transcription factor Nkx2.5 and Chinese patients with congenital heart disease (CHD).


METHODS
Polymerase chain reaction (PCR) and DNA sequencing were used to check 99 CHD patients and 90 normal control subjects from the Zhong Da Hospital of Southeast University. After amplifying the exons 1 of the Nkx2.5 gene by PCR, we purified the PCR products and conducted the sequencing reaction, analyzed the mutation screening of the exon 1 of the Nkx2.5, investigated whether or not the Nkx2.5 is related with the CHD in Chinese population.


RESULTS
A mutation (A239G) in the exon 1 of the Nkx2.5 was identified in 3 of 90 normal control subjects and 12 of 99 CHD patients, including 3 of 24 with VSD, 7 of 35 with ASD, 1 of 13 with PS and 1 of 21 with PDA.


CONCLUSIONS
There are some associations between the Nkx2.5 gene mutation and occurrence of congenital heart disease in Chinese people.
Ding
Jian-Dong
JD
Department of Cardiology, Zhong Da Hospital & School of Clinical Medicine Southeast University, Nanjing, 210009, China. dingjiandong@163.com
Li
Kai-Ru
KR
Zhang
Xiao-Li
XL
Yao
Yu-Yu
YY
Reng
Li-Qun
LQ
Tao
Shao-Yu
SY
Fang
Xiang
X
Ma
Gen-Shan
GS
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors