Gene Detection And Analysis In Duchenne Muscular Dystrophy And Basal Cell Nevus Syndrome

Duchenne muscular dystrophy(DMD)is an X-linked recessive genetic disease characterized by neuromuscular degeneration.The disease is usually caused by a mutation in the dystrophin gene and thus leads to a loss of dystrophin function.DMD is a serious condition with a poor prognosis.It usually kills respiratory failure or heart failure around 20 years old.The incidence of DMD in male newborns is 1/3500,and its causative gene is dystrophy(DMD gene).The main type of mutation in DMD is partial deletion or duplication of the gene,which accounts for 60% of all mutation types.As there is no effective treatment for DMD,detection of DMD pathogenic genes,prenatal diagnosis and genetic counseling are key measures to prevent DMD.In this study,a Duchenne muscular dystrophy family was collected.A new pathogenic mutation C.7310-11A>G was found near the exon 51' splice site of the DMD by second-generation sequencing.The same variation was observed in the patient's brother,and the mothers of the two patients were heterozygous carriers.Through RT-PCR experiments combined with sanger sequencing,it was found that the new cleavage site mutation changed the splicing of DMD,and the 10 bp intron was inserted into the mRNA.When a 10 bp base is inserted into DMD's mRNA,it is analyzed to form a truncated protein,which may result in a decrease in the activity of the protein product and Duchenne muscular dystrophy.Basal cell nevus syndrome(BCNS),also known as Gorlin-Goltz syndrome(GGS),is a rare autosomal dominant hereditary disease.At present,the main pathogenic gene is PTCH1,and a few reports suggest that PTCH2 and SUFU genes are associated with BCNS,especially BCNS with medulloblastoma or meningioma.The clinical manifestations of BCNS include multiple organ abnormalities,mainly craniofacial abnormalities,nervous system abnormalities,skeletal abnormalities,hand and foot abnormalities,etc.In this study,a BCNS family was collected and the PTCH1 gene was detected by sanger sequencing.In the exon 2 of the PTCH1 gene,a new mutational mutation g.10652G>T was found in splicing site,and another patient in the family also has this variation.Through RT-PCR and sanger sequencing,it was found that the mutation caused the skipping the PTCH1 gene's exon 2.Therefore,this new mutation may be a pathogenic mutation in BCNS.