ABSTRACT
<p><b>OBJECTIVE</b>To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Denaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.</p><p><b>RESULTS</b>Among the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.</p><p><b>CONCLUSION</b>Combined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.</p>
Subject(s)
Adult , Female , Humans , Pregnancy , Young Adult , Base Sequence , Fetal Diseases , Diagnosis , Genetics , Genetic Testing , Molecular Sequence Data , Muscular Dystrophy, Duchenne , Diagnosis , Embryology , Genetics , Pedigree , Point Mutation , Prenatal Diagnosis , Sequence DeletionABSTRACT
Objective To determine the role of interleukin-18(IL-18) and vascular endothelial growth factor (VEGF) in the ovari-an hyperstimulation syndrome (OHSS) development. Methods Serum and follicular IL-18 and VEGF levels were measured with ELISA in 66 IVF patients, who were divided into three study groups according to OHSS risk factors on the day of ovum retrieval and whether will devel-op OHSS in future or not. 20 patients had no OHSS risk factors (normal group), 28 patients had OHSS risk factors without developing OHSS (OHSS risk group) and 18 patients had OHSS risk factors and developing OHSS in future (OHSS group). Results Serum and follicular IL-18 levels in OHSS group were significantly higher than those of other two groups(P<0.01). Serum and follicular VEGF levels in OHSS group were also significantly higher than those of other two groups(P<0.01). Conclusion Serum and follicular IL-18 and VEGF levels in OHSS group increased significantly, which suggested IL-18 and VEGF were positive correlated with OHSS development. And follicular IL-18 and VEGF levels in serum on the day of ovum retrieval have a prediction role in OHSS development.