ABSTRACT
<p><b>OBJECTIVE</b>To analyze HOXD13 gene in polydactyly in dispersion type of Fujian Han population in order to know whether there is mutation in HOXD13.</p><p><b>METHODS</b>All members were evaluated physically and radlologically. Genomic DNA was extracted from peripheral blood of the patients who were treated from Dec. 2012 to Apr. 2013, their parents, grandparents, and normal volunteers from our department. The polymerase chain reaction ( PCR) , agarose gel electrophoresis and DNA sequence analysis were adopted to analyze HOXD13 from six cases with polydactyly and forty normal volunteers.</p><p><b>RESULTS</b>All patients had no family history. A heterozygous synonymous mutation, c. 291 C > T( p. A60A), was detected in exon 1 of the HOXD13 Gene in five of the polydactyly patients. Similar mutation was not detected in one brachy dactyly patient and the forty normal volunteers.</p><p><b>CONCLUSION</b>A heterozygous synonymous mutation, c.291C > T (p. A60A), of the HOXD13 gene may be related with polydactyly in dispersion type of Chinese han population.</p>
Subject(s)
Humans , China , Exons , Heterozygote , Homeodomain Proteins , Genetics , Mutation , Polydactyly , Genetics , Polymerase Chain Reaction , Sequence Analysis, DNA , Transcription Factors , GeneticsABSTRACT
Angiotensin II (Ang II) plays an important role in cardiomyocyte hypertrophy. The combined effect of hepatocyte growth factor (HGF) and Ang II on cardiomyocytes is unknown. The present study was designed to determine the effect of HGF on cardiomyocyte hypertrophy and to explore the combined effect of HGF and Ang II on cardiomyocyte hypertrophy. Primary cardiomyocytes were isolated from neonatal rat hearts and cultured in vitro. Cells were treated with Ang II (1 µM) alone, HGF (10 ng/mL) alone, and Ang II (1 µM) plus HGF (10 ng/mL) for 24, 48, and 72 h. The amount of [³H]-leucine incorporation was then measured to evaluate protein synthesis. The mRNA levels of β-myosin heavy chain and atrial natriuretic factor were determined by real-time PCR to evaluate the presence of fetal phenotypes of gene expression. The cell size of cardiomyocytes was also studied. Ang II (1 µM) increased cardiomyocyte hypertrophy. Similar to Ang II, treatment with 1 µM HGF promoted cardiomyocyte hypertrophy. Moreover, the combination of 1 µM Ang II and 10 ng/mL HGF clearly induced a combined pro-hypertrophy effect on cardiomyocytes. The present study demonstrates for the first time a novel, combined effect of HGF and Ang II in promoting cardiomyocyte hypertrophy.