Assay of growth hormone receptor gene mutations in children with idiopathic short stature / 中华内分泌代谢杂志

A homozygous A to G transition (AGT to GGT) in codon 16 of growth hormone receptor (GHR) gene was found in one patient with idiopathic short stature(ISS), resulting in an amino acid change(Ser16Gly). This may be a novel GHR gene mutation; and another novel Arg43Gln GHR gene polymorphism was found in Chinese people.

Capillary electrophoresis and laser-induced fluorescence (CE-LIF) for screening of wild type genes based on molecular beacons hybridization / 中华检验医学杂志

Objectives A new method for the detection of PCR ampli fied DNA in capillary electrophoresis and laser induced fluorescence (CE LIF) system based on molecular beacons hybridization is described.Methods The method is based on the hybridization of molecular beacons into the amplification product, then separating the hybridized product with CE LIF system. This method was applied to the detection of p73exon3, p53exon5 and p16exon2 for gastric carcinoma. Results Detected with CE LIF molecular beacons method, the wild type percent of p73exon3 is 100%, same as SSCP; p53exon5 is 60 0%, while SSCP is 63 3%, P=0 99; p16exon2 is 20 0%, same as SSCP(20 0%).Conclusion The results demonstrate that the specific peaks appeared in wild type samples while no peaks or unspecific peaks in mutation ones. The results showed correlation with the results of PCR SSCP. The method is able to develope as a clinical screening method for tumor suppressor genes to diagnose carcinoma.