A Case Report Of SRY Gene Mutation In Sexual Development Disorder And A Study On The Correlation Between Osteocalcin And Glycorelic Disease

PartⅠA Novel De Novo nonsense mutation on SRY gene in 46,XY disorder of sex development AIMS 46,XY disorder of sex development(46-XY DSD)is a kind of disease with abnormity in sex differentiation,which is capable of highly genetic heterogeneity.It is characterized by discordance in karyotype,gonadal sex or phenotypic sex.The clinical manifestations of 46,XY DSD patients present difference in the degrees of abnormity in genitals.The morbidity of this disease is 1/100000.In order to investigate the molecular mechanisms of 46,XY DSD and the significance of SRY gene mutation in sex differentiation,this research analyzed the clinical characteristics and conducted amolecular geneticsdetection in a 46,XY DSD patient.Methods detailed clinical materials of this patient was collected.with informed consent of the patient and their families,the genomic DNA of this patient and her family members was extracted form peripheral blood.High-throughput sequencing was conducted and the sequencing data was read by NextGENe software.The uploaded data was analyzed by Ingenuity Variant Analysis.Then the candidate variations was specifically amplified by PCR and verified by Sanger sequencing.Results a novel nonsense mutation(c.181A>T,p.Lys61*)was detected in this patient with 46,XY DSD,which was not previously reported in HGMD and ExAC.SRY gene detection revealed A to T transition at nucleotide position 181.Related abnormalities were not observed in the other family members(father,mother and sister).Conclusions This novel mutation is a pathogenic gene in this patient with 46,XY DSD,which enriches the mutation spectrum of SRY gene andreveals that SRY gene plays an important role in sex differentiation.SRY gene detection is meaningful for us to explain the pathogenesis of 46,XYDSD in molecular level.PartⅡRelationship between serum osteocalcin levels and diabetic retinopathyAims To study the relation of carboxylated osteocalcin(OCN)and uncarboxylated osteocalcin(un OCN)with diabetic retinopathy.Methods 32 patients with type 2 diabetic retinopathy and 32 patients with diabetes but without retinopathy were enrolled.Metabolic parameters and demographic features were collected,their sera were extracted and tested with ELISA,to quantify the concentrations of OCN and un OCN in the two groups of patients.Results un OCN,in stead of OCN,is lower in the sera of patients with diabetic retinopathy;Only un OCN is related with age and existence of diabetic retinopathy.Pearson correlation shows only whether retinopathy or not is related with un OCN(r=0.273,p=0.029).Conclusion un OCN,rather than OCN,is more related with diabetic retinopathy.