ABSTRACT
<p><b>OBJECTIVE</b>To explore whether there are gene mutations of Tolloid-like 1 (TLL-1) gene in Chinese patients with sporadic congenital heart disease (CHD).</p><p><b>METHODS</b>One hundred and fifteen patients with sporadic CHD were selected as CHD group. One hundred and two age and gender-matched healthy people were recruited as control group. After amplifying the exon 10 of the TLL-1 gene by polymerase chain reaction, the polymerase chain reaction products were purified, sequenced and analyzed in order to investigate the TLL-1 gene mutation.</p><p><b>RESULTS</b>An insertion mutation of base A in the exon 10 of TLL-1 gene was identified in 7 out of 115 CHD patients, including 3 patients with atrial septal defect, 2 patients with ventricular septal defect, 1 patients with patent ductus arteriosus and 1 patients with complex CHD, the total mutation rate was 6.1% in CHD group and 0 in control group (P < 0.01).</p><p><b>CONCLUSIONS</b>TLL-1 gene mutation with an insertion mutation of base A in exon 10 is often in Chinese patients with various CHD. The underlying pathogenesis between TLL-1 gene mutation and occurrence of congenital heart disease in Chinese people remains unclear and warrants further investigations.</p>
Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Asian People , Genetics , Base Sequence , Case-Control Studies , Exons , Heart Defects, Congenital , Genetics , Mutagenesis, Insertional , Pedigree , Tolloid-Like Metalloproteinases , GeneticsABSTRACT
Objective To establish the chromatographic fingerprint of Curcuma wenyujin by HPLC.Methods The chromatographic fingerprint of C.wenyujin was established by HPLC with Shimadzu VP-ODS C18 column(250 mm?4.6 mm,5 ?m),acetonitrile-water(0.1 phosphoric acid) gradient elution,the flow rate of 1.0 mL/min,column temperatures of 30 ℃,and detective wavelength at 210 nm.ResultsTaking germacrone as the reference peak,14 common-peaks were selected as the fingerprint peaks.The similarities among samples of C.wenyujin among 19 approved samples and their standard chromatographic fingerprints were calculated with a software "Similarity Evaluation System for Chromatographic Fingerprint of Chinese Materia Medica" published by GPC(Version 2004A) and cluster analysis.ConclusionThis method with better accuracy and reproducibility could be used in the quality control of C.wenyujin.